08 November 2013

You Can't Get There From Here

Fauquier, VA
When I was young, the family would often spend a part of the summer vacation in Arkansas with my paternal grandparents. We'd go to Heber Springs and climb Sugar Loaf mountain. We would fish in grandpa's man-made catfish pond or the natural rivers. We investigated innumerable forests and caverns. After one trek out to see some of Arkansas' natural wonderment, dad decided to proclaim that he had seen all that was to be seen. A local quizzed him and found his knowledge was truly vast. He had taken the family as far south as Little Rock looking for new woods, rocks, and rivers. Ah, but the local man grinned a crooked smile when he discovered that dad's experiences lacked a view of the "Devil's Tea Table". He hadn't been? How could this be? Where was it? Kids, get in the car! Oh, the old man could tell us the way. Just past the gas station, we'd find the Piggly Wiggly on our right. Go 'bout a mile and half and hook a left. 12 miles later we would come upon an old barn. Well, not really. You see, the barn burned down, but the remnants were still there. Get to the barn and turn slightly right. It's a hidden road, but you'll know if you missed it if you end up at a fruit stand talkin' to a guy named Jim.

Well, we ended up talking to Jim. He told us that the road was out of use and over grown. But if we went back the way we came and turned left at the old school house, there would be another road. An hour later, we're at the gas station asking where the school house was. To which the attendant replied that the old school house was now a dress shop. Couldn't have missed it.... except we did. Exasperated, and with two unruly children in the back seat, we went home. For years dad was on a quest to find the Table. Always the directions seemed to send us on wild chases that often found us lost (and sometimes buying fruit from Jim). Some even suggested that the Table wasn't here, but a county or three over. Or maybe it was part of the national park. No, no, no, it was on private property. One time, dad asked what the address was. "You mean like a house number? We h'ain't got those out here." And then came my favorite reply: "Oh, you can't get there from here. You gotta go somewheres else first." Like the fabled unicorn, the Table became forever hunted and never found.

What genealogist doesn't have a similar story? You want to visit the places your family lived for sentimental reasons or to check local repositories for records not available online. You've made a list of relatives that lived and died in a particular location and you take off a few days from work, hoping to make some real progress and step inside history. And what do you find? Your ancestor is buried in a family cemetery that has been gobbled up by nature, leaving no markers above ground. Or the family lived in a county that was absorbed by the neighboring ones, so you're not sure if it's County A or County B that now houses the records you need.. The progenitor of your line helped to found a town that no longer exists and the local researchers have not heard of it before. The family purchased land and the boundaries are described in relation to physical markers that have moved or are worn away due to flood or earthquake. You've traveled miles to find out "you can't get there from here."

It is so very important to know the history of the land as much as the history of the people. We must always remember that borders are just lines drawn on paper. And a map will often describe a territory, but it is not the territory itself. In my own tree I am reminded of several examples: Germantown in Virginia. The German immigrants who settled in Fauquier County isolated themselves and soon were their own community. But Germantown doesn't exist now as the town was moved and renamed. Then there's Reelfoot lake in Tennessee. It was created in 1811 by an earthquake that actually caused the Mississippi River to flow backwards into the newly depressed land. Any territories described prior to 1811 would be underwater, or have a serious face-lift, when sought out by modern researchers. And there's any number of instances of territories becoming counties and states, like Kentucky being carved out of Virginia's territory.

In many genealogy circles, it's an accepted practice to use the place name that is listed in the document we are citing. First, it is more historically accurate; closer to the truth of the time. Second, knowing that the town was in an adjacent county 100 years ago helps you, because those early records will often be housed in the original county instead of the one in which the town now resides. I have a will for one 4th great grandfather that was in another state than the one he died in only because, after his death, the borders were redrawn. It's not like the counties exchanged records so future genealogists wouldn't have problems. Also, contemporary newspapers and literature will reference those old names, so knowing what it was called (even before your ancestor was born) may help guide your research to the correct collections. If I can't find a commonly named ancestor, I often search the towns he/she lived in. If I know that Newton was originally Jo-Bob's Bluff (random example), then I would be better off searching out Jo-Bob's Bluff.

But if we want to get a clearer picture, we must know what it was then and what it is now. I've always argued for the modern place name being used in all facts. First, many of us are using some sort of software or online option to house our research. These computer programs use either Bing or Google Maps or some other similar mapping tool. These tools use today's names, so having the historical name will confuse the mapping tool. When you plan a research trip, modern place names can help you. Your ancestor may be found in three censuses with three different counties listed. He didn't move three times, but the borders of the surrounding governments did. Knowing where his homestead is now listed will help you locate it. Second, it's not unusual for your family lines to converge on the same place at different times. So mom's side helped found Orange County, North Carolina. After World War II, dad's side immigrates to Caswell County, which was carved out of Orange County and includes mom's ancestral lands. Using the modern name helps you realise just how closely connected they are. Third, while the record may be using the contemporary name for the date of it's publication, it may not be describing a current event. A great example is my 2nd great grandfather Levingskas. His birthplace alternates between Lithuania, Poland and Russia dependent upon the time period and who "owned" the land at that exact moment that the record was created, not the event itself. The most accurate truth would be to name the birthplace by whatever location name was in effect on the day of his birth (or as close as I can get to it). But we again run into the problem of that map no longer describing the territory. What was one is now the other (and 100 years from now could be something else entirely!).

In reality, you need both the historical and the modern location names. The historical name is important for accuracy. I suggest putting the historical name in the description area if you use software (or as a note if you're using paper). If you're looking at an old map or land grant, the original name will be of use in describing the territory as it was. But I must reiterate that modern place names should be in the fact itself. Our new research options for organisation and mapping are easiest with modern place names. When talking to other people, they may not be familiar with the older names, but readily recognise the modern name. Genealogists don't live in a bubble. You may have to talk to a person who hasn't lived in the area "all their lives" and wouldn't know that the Wendy's used to be a Bob's Big Boy. Also, as borders are always changing, knowing what it is then and now can give you a leg up when the area becomes the next thing. We can't keep looking back to the exclusion of looking forward........

..... or we'll have to go somewhere else first to get where we're going.

*** Note: I found the Devil's Tea Table in 2012 using Google Maps. Dad's response? "Too late now, I'm bored with it."

20 September 2013

When I Need You, I Just Close My Eyes

Dear Grandpa,

We're coming up on the sixth year without you here. I have to admit, I find myself missing you at the oddest of times. When a moment of silence intrudes upon my day, I think of the times I didn't say enough to you. Years could roll past before I'd even consider visiting. Like every young person, I was busy. So very busy doing nothing and getting nowhere. While you weren't always in my sight, you were always in my heart. You still are. Nowadays, you are almost always on my mind.

Two peas in a pod; that was us. No one was more hard-headed and stubborn than you, until there was me. You seemed to take conversations as a challenge to mentally wrestle me into a defeat, but I would never give up. No matter the subject, if you took the pro, I was the con. If you derided something for being useless, I had to extol it's intrinsic worth. If you changed your mind, so did I. And I always had to use big words. Not because I thought you were stupid. No, you were never stupid. But I had to substitute vocabulary for the size and age (wisdom?) you brought to the table. I didn't think about how it may have hurt you to have a grade-schooler outstrip you in debate. And to an outside party, I'm sure they thought I was tearing you down. But you and I knew. I could see it in your face. You enjoyed the fight. You were proud of me. And I was proud of you.

I still am very proud of my grandpa. I speak about you often. I tell stories about my childhood, always with a prejudice to stories about you and me. I doubt anyone has more shaped my outlook on life than you. And who better? Born in 1927, the first child of an unmarried mother, you began life in difficult times. You were the grandchild of a farming family, so hard work would not be a stranger to you. Which would be good practice; you were barely a man when war found you. Or did you find it? You entered the U.S. Army and became a Ranger. Dad tells me you were a driver for General Patton and that you stayed in France during the war. He also says you were in Germany for reconstruction. I've filed a request for your military records.... I wonder what I'll learn or confirm? I have pictures of you from the war. Dad found an envelope with my name on it when he was clearing your house. Inside were some unmarked photos of half toppled buildings. And one of you. Where were you that day? Who were the young men in the photos with you? What story did you want to tell when you took these? How I wish you were here to tell me now.

You know I've always loved history. And getting me to shut up was never easy. Now I never shut up about family history. And you've been one of my favorite subjects. Not that you've been easy to find, mind you! I've located your birth certificate.... well, a transcript. I have to get Kentucky to send me a copy. Not that it will list your father's name. Your mother listed you under her maiden name, leaving me a mystery to solve. You were living with your maternal grandfather during the 1930 census. He told the enumerator your last name was Berrio. But we both know what a dead end that is, don't we? Auntie tells me that you told her about confronting a man named Berrio, only to find out he wasn't your father. He gave you another man, Estes, but that man denied you too. I wonder if that hurt you, hardened you. I've heard that when you joined the army, you had to request a delayed birth certificate, and that you chose to stick with your stepfather's name, Gibson, when you had the chance to change it. You were used to the name? Or did you love your stepfather? Dad tells me he remembers his grandfather as being very unkind and cold to you and your children. Dad says that your stepfather didn't consider you family. But is that the truth or is dad remembering his own coldness? You wouldn't believe the number of conversations I have with him about family. In one breath he's "blood doesn't define a family" and in the next it's "I don't care about that side, they aren't really blood related". But you know dad, he's right today and he's right tomorrow. He got that from you. And so did I.

I'd love to be more right about you. If I had just one more day, I'd ........... who am I kidding? I'd like to say I'd ask you all sorts of questions and pull out photos and have you identify everyone. I'd like to say I'd ask you point blank about your military career and your marriage. I pretend I'd have the guts to ask you about losing your first daughter, Evelyn, when she was only 9 hours old. I imagine the brickwalls of my family history tumble. But we both know what our one day would be. You'd make your famous cookies; I'd eat until I was sick. I'd remark on some little factoid I had learned, you'd call me Miss YellowPages. Naturally, and almost instinctively, I'd correct you. YellowPages are for phone numbers. I'm an Encyclopedia............ and we're off to the races. Then dad would have to "separate the kids", although we wouldn't understand what all the fuss was about.

After all, we're just talkin'

18 August 2013

Can't spell Promethease.com without T-E-A-S-E

When you get into the meat and potatoes of genetic genealogy, you will find there are many good DNA tools that can help you in your research. Some require your raw results added to their servers, others have a tool you download and use on your own. Some share your information with others, some don't. I could spend every day talking about all that is out there for you to explore.

But I won't.

I'm actually getting ready for a break from DNA. I've been working so hard on it for so long that I think I'll go insane soon. I've upgraded my brother's FTDNA kit to an autosomal test and with that and my maternal cousin's test, I've not only been comparing our matches, but also mapping our shared segments. My parents share a line (or two), so there is expected overlap. But I figure where my brother and I share a segment and my maternal cousin doesn't is a good place to start for paternal matches. It's still possible the segments are part of the shared line or maternal material my cousin didn't get, but there has to be something that is exclusive to dad, right? I mean, what are the odds that I got only his mother's DNA? Things to make you go crazy.....

Which leads me to my last DNA post for a bit. And I promised to tell you about a tool that cost you only $5 and was a bit of fun. I will warn it may drive you crazy if you let it. The website is Promethease.com. What does Promethease give you for $5? Well, you upload your raw results and they spit back a chart of the good, bad and indifferent in your DNA. You see, ever since we could code DNA, scientists have been researching what segments control what in our bodies. So there are thousands of published works on cancer risk, heart disease, mental issues, immunities, drug interactions, etc. and this tool tells you what studies have said about alleles you carry in your DNA. Now, does that mean you have or have the potential to have a disease listed? Meh. This isn't a medical test. It's using published work that may or may not have a bias in it's research. If you're looking to solve medical mysteries or gather information prior to having children, go see a medical professional and get a "real" test done. If you just want to have a bit of fun, let's hop right in!

So I ran the tool and got my results in about 10 minutes. After playing around a bit to see what I was looking at, I reviewed my results:

My Good
  • I have a lactose tolerance due to a European gene. Cool. I like milk.
  • I am difficult to hypnotize. This is true. I have actually had people attempt to hypnotize me with no success.
  • I have a resistance to HIV. Now, this one is awesome, because the theory is that this is actually an indicator of immunity against the plague. I apparently would've had to have had a relative who contracted and survived the plague in order to have this passed down to me. I've also done my maternal cousin's results and he's got a higher frequency than I, which means both of his parents carried this allele, whereas only one of my parents did.
  • I have lowered odds of going bald. Good to know. Oh, but my bad includes increased risk of baldness. Well crap on a cracker.
My Bad
  • Increased risk of cancer (breast, lung, and prostate). Weirdly, I have also a decreased risk of cancer in other alleles. So this one's a wash, apparently.
  • Increased risk of diabetes. I'm pretty sure my obsession with fast food and aversion to physical activity increases my risk of diabetes anyway.
  • Increased risk of Crohn's and IBS. Interesting considering those diseases do actually run in my mother's side.
  • Increased mental disorder risks including dementia, bipolar disorder, depression, and suicide. On the other hand, some of these are also linked to higher intelligence and creativity. Well I am awesome. Sometimes crazy awesome.

My Indifferent
  • Once again, this tool tells me my eyes are blue. I've already informed the creator that my eyes are brown.
  • Sensitivity to sunlight. I do burn easily. I avoid direct sunlight like a vampire.
  • I have impaired motor skills. I don't know about that.... well, my reflexes are a bit slow. And sometimes I'm a klutz.... but "impaired"? little harsh.
  • Loss of short term memory. This one yes. A thousand times yes. It's not an all the time "Finding Nemo" Dory thing. But I do have trouble retaining information the first time through. And names? Forget it. If you tell me your name, I've already forgotten it before we're done with the handshake.
  • Curly hair. Nope, straight.
This is just a small portion of the report. You get a zip file that has the report itself, then there is a data folder that will show you medical conditions, how medicine affects you, and other things studies claim to have found that are a bit complicated. Each one of these results will come with a link to more information about the allele and the studies that "found" these conditions. Read the studies. Like I said, some will have a bias in their research. Just like any other source, you have to evaluate the informer as much as the information. That's why this should be a "just for fun" kind of thing. If you're one of those people that worries over every news story about Ebola even though you weren't anywhere near the outbreak city (or state), then don't use this site. You'll just worry over every little thing. To be sure, I'm no more worried about my risks of heart disease than I was before. And I'm not going to start kissing rats or engaging in risky behaviour just because I'm supposedly carrying a plague/HIV immunity. Again, if they can get my eye color wrong, how right can they be about my arthritis risks?

When it came to this tool, I found myself interpreting the results through what I already knew about my family medical history. And maybe that's the best way to look at it. I mean, ideally I should be using the information to find new clues to unknown issues, but I get less stress by just using it as a confirmation of what I know. In the medicine interactions area, it suggests that I have an increased risk of liver damage if I use Tylenol. Well, I do use Tylenol. So should I stop based on this test? Not really, no. I had an injury that sent me to the hospital right after I received my results. The doctor told me to take some Tylenol and rest until the pain went away. I asked him if I could take aspirin and he said that it would thin my blood and that was a greater risk to my condition at the time. After talking to him about my Promethease results and reading the studies involved, I've not changed my Tylenol routine. But I will admit that sometimes, right before I take that little pill, I hear a voice in the back of my head saying, "We really need to switch it up every now and again. Just to be safe."

But then my short term memory fails and I forget all about that silly little voice,

20 July 2013

Third Party DNA tools: Gedmatch.com

I feel lazy. I haven't written in this blog in a month and I feel terribly lazy. However, I've been terribly busy. Why? Well all these wonderful DNA matches keep rolling in! I received my AncestryDNA results for my maternal 1st cousin and have been putting his results into a spreadsheet with my results to see where we *don't* overlap so I can focus on cousin matches that are probably exclusive to my father (my parents do share an ancestor, so there is a lot of overlap!). It doesn't help that Ancestry doesn't have any way to look at the chromosome data so I can see where I match my matches. It doesn't help that I can't look at how my matches match others to see if there is a pattern. And it really doesn't help that I can't easily compare how many matches my cousin and I have in common.

Enter Gedmatch.com!

Gedmatch.com is a volunteer-run free website that allows you to upload your raw autosomal DNA data from AncestryDNA, 23andMe, and FTDNA to use their host of tools. I will start off with the warning that they are so backlogged with new uploads that they aren't accepting any new ones until mid-August (currently the 15th). But I've put off this post for so long, that I think it's best to just let you know about all the features and let you get ready. So what does Gedmatch do that's so special? Why will you be sitting on the edge of your chair waiting for August 15th?

One to Many
The first option for analyzing your data is the "one-to-many". This option allows you to compare your data with the entirety of Gedmatch's database. Now, I'm going to take a moment to mention IBS and IBD. Inherited by Descent (IBD) is the term used when your DNA matches someone else, because you've inherited the DNA via a common ancestor. Inherited by State (IBS) is when your DNA shows a match, but is most likely due to just random jumbling of DNA that looks like someone else's DNA. How do you know if your match is IBS or IBD? General rule of thumb in genetic genealogy: a DNA segment must be at least 7cM (centiMorgans) long in order to be IBD. Now, 7 cM is terribly small. To put it into perspective: a sibling will have 2350cM in common with you. A 1st cousin will have 800 cM, 2nd 200....by 5th cousins, there's only 25cM in common! So a segment match of 7 is going to be way back there. If you're looking for close relations, you'll want to look at larger segments.

Why is that all important? When you go to the "one-to-many" tab, you'll be asked what you want the minimum length of autosomal DNA segments to be for your matches. It's default setting is 7cM. Go no lower. A second length option you have to set is for the X chromosome. Now, there is value in an X chromosome match. If you match a male on his X chromosome, then your focus should be the maternal side of his tree. The default value for the X is 3cM, however. This tool will pull up any matches of autosomal DNA of 7cM OR 3cM on the X chromosome. So you could end up looking at a lot of matches that are high on the X chromosome, but below the threshold on the autosomal DNA. Does that mean you aren't related to them? Not entirely. The problem is that the X chromosome isn't gender specific. Yes a male has only one X and gets it from his mother, but his mother got one from her father as well as her mother. So the variety of ancestry makes the X unreliable on it's own (for right now). When you set up your defaults, set the X option higher (30 or more) to filter out any matches below the autosomal threshold. You can always look at those matches later, but your first foray will be less confusing if you leave those bits off. There is also a check box for cross referencing. I won't get into what it is, because it's unreliable. Just don't check that box.

This is the one to one of my best match and myself.
I would focus on the chromosome 2 segment as it
meets the 7 & 700 rule.
Your results will come in a table. You can hide the autosomal column or the X column if you want to focus on the numbers in one or the other. You'll see the kit number for the match (I'll explain that later), their email if they made it public, and your estimated generations before common ancestor. There is an "L" that is a link. You click on that and you see a list of kits that person matches. You can use that to compare matches you have in common, which could help you figure out what side they match with you. The autosomal and X columns have an "A" and an "X", respectively. You click on those and it shows you the specific segments you have in common with that person. Remember, 7cM is the minimum for IBD. But that's not the only number you need to have in your head. The other is the number of SNPs (single nucleotide polymorphisms) in that segment: 700. I try to remember it as the 7&7 rule. If I find a segment that is 7cM long, I then check if it's 700 or better on SNPs. Often, you'll match a person on one chromosome and meet these parameters and then match them on other chromosomes under the minimum. Those other matches are IBS matches and should be ignored when figuring out all that is here. The best part of this table is that you can select multiple kits and compare them all at the same time. I have 6 matches that all have the same email (uploaded by the same person for different family members). I checked each one and then did a comparison. It was obvious from the segment lengths that two were siblings, one was a parent, one was a cousin and the other two were children of one or the other sibling. A message confirmed this assumption and matching all of them on a specific chromosome helped us to figure out how we connected to each other and other tests that we matched on that chromosome segment. Since the parent was their father, and I matched heavily on his X chromosome as well as the autosomal, then we were able to work on his maternal line to find the match.

One to One, X One to One, Phasing, One or Both, and Specific Segment
The next options on the home screen are "one-to-one" and "X one-to-one" comparisons. These are similar to the results you get when you click those "A" or "X" links on the "one-to-many" results, but you can better control the minimums to fine tune the comparison. To be honest, the only time I use these is when someone in a discussion group tells me their kit number and I check to see if we are matched. Same rules apply: 7 & 700. "One or Both" is the option if you want to find matches for more than one kit. When I finally am able to upload my cousin's raw data, this option will help me find the kits that match us both much quicker than running separate reports and comparing names myself.

Phasing is an option I haven't explored as I'm not a parent, nor has either of my parents taken the test. What phasing does is take one or both parents' kits and compare them to their child's kit to figure out what DNA is mom's and what is dad's. It takes a while for the results to come back (about 3-5 days).

And then there is the "Specific Segment" option. You can put in the chromosome number and the segment start and end points, with the thresholds for minimum length allowed, and a report of kits matching you specifically on that segment come up. I've tried it with the chromosome segments that my closest matches have in common with me, but haven't found anyone with a significant match on that segment other than them. Ah well.


Admixture is the fancy name for ethnicity. When you took your autosomal test, the company you chose used their own reference populations and algorithms to calculate your possible ethnicity mix. Now, as I've pointed out before, there's a lot of guess work involved. Let me illustrate the point for you:

The results page for each of these tests has a link to the blog or development data. I recommend viewing those links to get information and details straight from the horse's mouth. Sometimes, if not too overworked, the developer can answer a question; or someone else has already asked your question and received an answer!

These four pie charts show my ethnicities according to four different calculators: MDLP, Dodecad, Eurogenes, and Harappa. You'll note that they don't use the same names for similar areas and that even when they do, the percentages can vary wildly. Eurogenes has a chart of where the populations they use as a reference are from. Does that mean that if I match them, that my family is from there? Not really. It's just a way of defining the area. Just because the "South Baltic" ethnicity uses Lithuanians to define it, doesn't mean my family is from Lithuania. Now, I have records that indicate they are, but because of migrations and border changes, they could be Polish or Russian.... all this calculator tells me is that my DNA has data in common with the Lithuanians that were tested.

I used the K12 for each (save Harappa) to give a fair comparison. That means there were 12 possible categories to have represented in my DNA. Every calculator save Harappa has multiple options as far as how refined the results will be. Eurogenes will go up to 36 categories. Well that means we'll get better results, right? Not really. At some point, you can take your DNA to such a small amount that what you match isn't really proving your deep ancestry as much as reporting noise. Just like the matching needs to follow the 7&7 rule, ethnicity works best at 5% and above. Most people, including the developers of these tools, will tell you that K12 is your fairest bet.

And then there's the test to find Ashkenazi DNA............

This is a comparison of the EU Test and the J Test options. It is recommended by the developer that you compare both as Ashkenazi can show a false positive. My supposed Jewish DNA is very small, so it's more likely than not that it's just noise. I explained all of this to my mother, but she's been convinced for years that we're Jewish, so she clung to this like the last chopper out of Nam and has told everyone how her smart daughter found the proof. Oy vey.

Eye Color and Rare SNP
In the end, I guess what I'm saying is that the admixture tools should be used for fun, not actual science. Maybe one day, but there's no definitive proof that's going to give us the answers we're looking for without a large margin of error. And speaking of "fun" tools with large margins of error.....
I'm not sure, but I don't think they're blue...

There is an option to see what your eye color is. I know, a mirror works just as well, be quiet and listen. This tool looks at the multiple mutations required to make your specific eye color. If you recall my earlier posts, it's not just one gene that decides if you have blue eyes, it can be dozens. So I checked my eye color and it says they are blue/grey. There's some markers for brown and I'm supposed to have golden irises or some such thing, but the user submitted photo of an eye that matches my DNA is bluish grey. In case you've not seen me before, I have very dark brown eyes. They've lightened a bit as I've aged, but when I was a child they were almost black. I can say that I've now studied my eyes more than I've ever done before and I do see some golden flecks near the pupils. And there seems to be some bluish tones that could lead some to say I have hazel eyes. So maybe as I get older, my eyes will start to go grey like my hair? Why do I find that so cool?!

The other supposedly fun tool is the Rare SNP calculator. This tool looks for SNPs that aren't found in the majority of the people in the database. Why would you want to know about these rare SNPs? Well, if you have something truly uncommon, it could help you connect to others who are part of that small group of people. They would be very likely related to you in order to have received that same rare mutation. There is a warning, however, that you need to take super serious: these rare SNPs can impart medical information! The medical information is based on studies (whether or not they are good studies is up for debate) that claim to connect that mutation with a disease or resistance or increased risk (or decreased risk). Please, don't use this utility as a replacement for talking to a medical professional. First, it's set up very confusing. Second, just because you carry a gene doesn't mean that gene is actively working against you. If you want to know your medical genetic information, see a genetic counselor. I need to also warn you that there is a new option to join the SNP pool. This allows you to compare your rare SNPs directly with others who have joined the pool. You will be able to see their medical information based on their DNA and they will see yours. I see no genealogical value in this tool at this point, so I actually don't recommend using it. It's not worth working yourself up over every cancer gene you have. And it's certainly not worth letting strangers work themselves up over every cancer gene you have.
So welcome to the information overload. Now you know what's been taking me so long! I've got one more utility I want to cover and then I'm thinking a wrap up on this series (I'm getting a bit tired of DNA to tell you the truth). I know I've not covered all you'll need to know about Gedmatch.com, but I have three last points:

1. I've started a discussion group on Facebook for those looking to compare notes and ask questions:
Gedmatch. Discussion Group. Even though Gedmatch is in the title, we'll discuss anything related to genetic genealogy. We've got some files and explanations already up, but no question is discouraged.

2. When you upload your raw data, you'll be given a kit number. It's usually a letter that indicates what company you took your test with and a series of numbers. You need that number to run the tests. You can share the number on discussion groups, but then anyone can input your number and see your matches, so it's up to you. Since this is true of the people who match you, note that uploading to this site allows them to see your matches and compare you to others, but only you will be able to use your rare SNP utility (unless you join the pool). Also, no one else can access your raw data. With that said, this is not for those who want to keep their DNA private. Yes, you don't have to give contact information. But I can take your anonymous kit number and look at your matches. With gumption and time, I could use that information to identify you via family trees and records. It's not easy, so it's not a large worry, but it's something those worried about privacy should consider.

3. This is a volunteer site. They don't charge a membership fee. When AncestryDNA finally allowed raw results to be downloaded, this site crashed twice from the number of people uploading their results. Now it's backlogged and runs the risk of crashing again when it allows new uploads. PLEASE take a moment to donate to the site via Paypal or the snail mail address listed on the site. You don't have to pay, but it's the right thing to do. This site makes using third party genetic tools easier for everyone. They give you a place to compare your DNA to people who took tests from other companies. They ask for nothing. They deserve support. Your money makes sure they can keep the site running and buy the server space necessary to give you as many matches as possible. Our continued support will mean improvements to the site as well! Even if all you can give is a little, give it. Give it twice. When you have a little extra cash and think about all those wonderful new matches you've discovered, give that money to show how grateful you are for this opportunity. Encourage others to give. Donate now so they aren't forced to make it a paid site to keep the lights on! (Don't think it can't happen).

Alright, I'm done for now. Up next is a second third party tool you may enjoy and it's only $5!

15 June 2013

Banking on Family Tree DNA

While there are dozens of companies that supply DNA tests to consumers for one reason or another, most genetic genealogists recognise or recommend only a handful. Top of that list has traditionally been Family Tree DNA. FTDNA was founded in 1999 and it's labs are used by other companies like DNA Ancestry, African DNA, iGenea, and even National Geographic. What this means is that it's the big fish in this pond. So is it the company for you?

In February of this year, I was seriously considering my testing options. I've already covered what mysteries I would like to solve and had come to the conclusion that genetic genealogy may be the only way I was ever going to get any clues. Then, like a divine sign, FTDNA reduced their 12 marker Y Chromosome test to $49! I had to get it. I begged my brother to take the test. Always supportive of my insanity, he was willing to be my guinea pig. What was I going to find out about him, he wondered. I had to be honest right off the bat.... I wasn't going to find out much. You see, when it comes to Y Chromosome tests, the more markers you test, the closer your relationship matches become. 12 markers would get us genetic matches within the last 29 generations. While I really wanted to find out about my great grandfather, I knew this test wouldn't do that. Well, I may end up finding a match to someone who is my 1st cousin, but the markers are too few to confirm such a close relationship. I would need the 37, 67, or 111 marker test to be sure. I wasn't ready to spend $170-360, so I was willing to just get a glimpse of what was possible.

So I paid my $50 and waited for my kit. I received it within a week, but had to pester my brother for almost two weeks to get him to stop eating, drinking or brushing his teeth for a minute so I could get him to give a viable cheek swab sample. Until you have to get someone else's DNA, you have no idea how hard it is to keep things out of their mouth! The kit comes with two cheek swab brushes, two vials, a bag and a release form so they can share your contact info with genetic matches. I sent the kit back, finally, and waited for my results. I say waited, but I mean "checked the site every morning, afternoon, evening and twice as much on weekends" for weeks. Mid-April I had the test results back and 125 matches. What did it all mean?

Not much, really. Like I said, I had paid for the 12 marker test. Because it is low in the number of markers checked, the common male ancestor could be centuries ago.... long before surnames were even invented. I got 125 matches and have not received any new hints since April. I did note that 27 of the matches had the same surname and that it was one of the possible surnames for my great grandfather. But in reality, this test was the genetic equivalent of a records index. I could see the names, but I couldn't look at the real facts and confirm the relationship. My goal was to find out more about our mysterious paternal line, and I do feel I accomplished that vague mission. While I cannot definitively connect the matches, there is enough new information to encourage me to work more on this line and possibly upgrade the test. FTDNA allows users to upload a GEDCOM to connect to their results. I perused a few of the trees on the matches that had chosen to do so and recognised some places if not names. Unfortunately, less than 20 had put in a tree, and most were very uninformative.

But was that all I learned? Not at all! At 12 markers, Family Tree DNA told me that my brother's Y Chromosome was R1b1. What is that? Remember the post on Y Chromosomes? Every time the chromosome develops an SNP (single nucleotide polymorphism), scientists give it a letter or a number in an alternating pattern to note where it lands in the tree of Y Chromosome Adam. So from the origin of the Y Chromosome in Africa, my paternal line comes from the R branch that developed 30,000 years ago in Western Eurasia. R1 turned towards Europe as R2 moved into Asia proper. R1b travelled into Western Europe about 25,000 years ago, while R1a went to East and Northern Europe about 10,000 years ago. When you click on the tab "Migration Maps", you get all this information as well as a very cool looking map that can tell you about this early history of your family. But the information for R1b stops at 25,000 years ago. I can't take the direct paternal line past 1927 with documents.... I may be missing a few generations to make the connection. The traditional way of speaking of haplogroups means that eventually the chain of letters and numbers becomes very long and confusing for some people, so the new school of genetic genealogists talk about the "terminal SNP" which is the last mutation on the list. The 12 marker test doesn't tell me what that is, but FTDNA "predicts" it is R-M269 (R1b1a2 in the old speak). If I upgrade the test, I could confirm this terminal SNP, which would help me go back to those matches and say "Hey! You have to be a close cousin because you have the same haplogroup! Wanna connect?"

Now what's all this talk showing up about upgrading my test? Well, FTDNA saves your sample so you can order an upgrade to more markers for the test you took, or a whole new test! FTDNA offers more than just Y Chromosome tests, remember? If I wanted to, I could order my brother's kit to be tested for their Family Finder (an autosomal test that connects you to cousins in their database just like AncestryDNA's autosomal test). I could order an mtDNA test to learn about my direct maternal line. Or I can upgrade the number of markers for the Y Chromosome test and get my matches confirmed to within the last 4 generations. (Hmmm, brother is 1, dad is 2, granddad 3.... hello great grandpa!). I can even order a full genome sequencing (if I'm made of money one day). And this is where the real benefit of FTDNA lies. Right now, they are still running the sale on the 12 marker Y Chromosome test. They've also added an introductory mtDNA test for the same price. Now, they won't break down your brick wall since they are so vague............ so why get one? To "bank" the sample, silly! You can always upgrade later when you can afford the more expensive tests. So get this test to just get a taste of what's out there. More importantly, get this test for any elderly relatives who may not live long enough for you to get around to the bigger tests! So who's on my list? My mother's paternal uncle is a good one. Since my grandfather is deceased, my great uncle is the best choice for an mtDNA test for their shared maternal line. If I could get my dad or one of his siblings to take the mtDNA test for their maternal line, that would also help me with some questions. And a male from my grandmother's maternal grandfather's family would tell me more about her grandfather (who I can not find before he immigrated to Scotland). I'm sure you can think of a relative who holds the genetic key to a mystery. One that is the last link to a direct maternal/paternal line (or at least the only one talking to you). Or maybe you have so many folks you want to test that the cost seems to overwhelm you. Have them take this test and then save your money for the upgrade when you are more flush. You can do the upgrade years down the road, so there's no reason to wait. Just head to a few genetic genealogy pages to see the stories of "I wish" to know how waiting any longer is a bad idea!

So I'm still learning about this company and exploring all the tools available to me now. I will say that I've enjoyed my experience so far and encourage others to take advantage of one or more of the tests on one or more of your relatives. While waiting for your results, upload a GEDCOM of your tree, watch the learning videos and read the FAQ. Join genetic genealogy discussion groups and get ready for an overload of information to come at you. FTDNA has lots of help topics and forums, use them! They also have surname studies and family group pages that deal with specific haplogroups and haplotypes and finding out how everyone who is genetically connected can confirm with real documentation. Because I'm still in the vague category of the 12 marker test, I've not delved too far into the groups, but they are amazing! Users of FTDNA are serious about genealogy and making connections, so you will find more people willing to respond to inquiries here rather than other companies that emphasise learning your ethnicity over connecting to other people.

The only con I really have about the site is that the FamilyFinder autosomal test is currently twice the price of AncestryDNA. And with third-party sites like Gedmatch.com accepting data from FTDNA, Ancestry and 23andMe, there's no reason to pay for the same test from all sites. You can even pay $50 to transfer your autosomal test from another company (sale price!) and use their database to connect with the testers who haven't currently transferred to Gedmatch. So paying them directly for the test isn't necessary, but it's your choice. And who knows? They could always reduce the price to better compete with the new kid in town. The current sales would suggest they're looking to stay big fish....

But you know what they say about fish in the sea....

30 May 2013

AncestryDNA- Should You Test and What Do You Get?

Note the phone number and warning that this is currently
available in the U.S. ONLY.
We've now covered basic genetic knowledge, the kinds of tests available to genealogists, and setting expectations before testing. Today we're going to explore one of the companies that provide genetic testing: Ancestry.com

Ancestry.com has provided Y Chromosome and mtDNA testing in the past, but has jumped into the autosomal testing in the last year. You can order a Y Chromsome, mtDNA or combination of both here.  Currently, their focus is on the autosomal test, so if you select DNA from their dropdown menu, the page to the left is where you'll land. And because of it's popularity and my own genetic genealogy desires, their autosomal test is the one I took and will be reviewing for the most part (as well as providing a fabulous "how-to"!). But I wanted to be clear for those interested that the other options are still there, just tucked away.

Why Choose Ancestry.com?
Of all your options, why should you consider Ancestry.com for your genetic testing? The best argument is the same one I'd give you for regular genealogy: It's the largest online repository for genealogical research. It has over 2.5 million subscribers (last time I checked) and that doesn't include all those folks taking the DNA test without subscribing to the research service. If you choose to include regular research along with genetic testing (which I whole-heartedly recommend), they will give you a jump start like you won't believe! And on top of all that, they have affiliate sites that include specialty records, photo sharing, and community forums at discounted rates (or free) that can help you take your research even further.

It's basically a "one stop shop". You take a DNA test, build a tree, compare matches and reinforce with documents all in one place. The famous hint leaf system will help give you clues along the way. And if you test your Y Chromosome or mtDNA with another company, you can transfer your results to Ancestry.com by following the instructions here. So even when you don't test with Ancestry, you can still use the system of members and hints to build your family history in ways many other genetic genealogy sites can't do simply because they don't provide family tree options!

AncestryDNA Home Page
Getting Started
So on Ancestry.com's home page, there is a row of dropdown menus along the top (grey bar). One is marked "DNA". Click on that one and you'll be taken to the aforementioned autosomal offer page. If you have a test already, or set up a purchase of one, the page to the right is what you'll see. I have one test completed, one test in progress. When the test is activated, you'll see a progress bar that will show you the status of your test from purchase to completion. Like most companies, they batch the tests (I believe updates are Thursdays), so you don't need to check daily. But you will. I did. For a month. Every. Day. Anyway, back to this DNA home page. If you order one test and want another, the right hand side has a box for buying another test. Above that you'll notice a green box with "BETA Send Feedback". A BETA anything is a test. I want to be very clear about this. Ancestry.com's autosomal DNA test is so new that we're getting it while they are still refining how they want it all to go. If you don't like something, don't think it's as accurate as it should be, or want a feature added, click the feedback button and tell them about it. Changes won't happen overnight, but if you don't provide the feedback with that button, they may not happen at all!

So you order your test, get it in the mail and activate it. Your next step is the settings for the test. You'll need to decide if you want email notifications of new matches weekly, monthly or not at all. Why would you choose to not get emails? Many people, including myself, didn't take this test for anything more than learning their ethnicity mix. Now, I'm also a thorough blogger, so I've used the other options of connecting to cousins and such, but it wasn't my focus. And it's not going to be the focus for everyone. After that is your privacy settings. You can show your real name or a user ID or something else. If the test is for someone else with you just administering the test, then their initials will show with a note that you're the administrator and that's it. The other privacy option is to show only matched ethnicities to other people. You'll see all your ethnic percentages, but your matches will only see the ones they have in common with you. Anything else will be marked as "other" to them. I'm not sure how this helps protect your privacy more than just making you feel like it does.

The grey box to the right is very important. When you first activate a test, you see the terms and conditions of a research project using AncestryDNA's results and have to accept or deny them before continuing. If you wish to review them, there is a link here. I like the idea of printing this out to show relatives I want to get samples from. The project is much like National Geographic in that they are trying to map humanity for language, culture, and migratory patterns. They also provide medical information to the study, so for those of you worried about handing that information out willy-nilly, you can opt out of participation when activating the test. If you do participate, your personal information will be stripped away. If at any time you change your mind, just email consent@ancestry.com to remove part or all of your information from the project.

 The next portion of the box is where you get your raw results. What are "raw results"? Simply put, it's your DNA codes. It's the information that Ancestry has found and uses in their program. Why would you want to download your raw results? There are many other websites that will accept the results to connect to their pool of participants. Also, you can use the results to try other ethnicity calculators and compare that to what you found on Ancestry.com. There are other third-party tools that will tell you about medical issues you have inherited. I'll cover third-party websites in their own posts. Many people clamored for raw results, because this is our information and we deserve to know what it says. Plus, there are tools that Ancestry hasn't implemented yet that are useful and other sites provide us access until Ancestry catches up.
Below the raw results download is a delete button. DO NOT DELETE YOUR TEST . If you want to lose the ability to connect to other people, access your ethnicity or your raw results, go ahead and delete. It removes your test from Ancestry's system. They don't store your sample, so this is all they know about you. You delete it, and that's it. Game over, man. I think the only reason I would use this is if a relative wanted the test, but didn't want it attached to my tree. I'd still download the results before deleting, but I would respect my family's wishes too.
Attaching Your DNA to Your Tree
In the settings, you can option to add your results (or the results of a relative) to your Ancestry.com tree. You don't have to have a tree on Ancestry.com. You don't even have to be a member of Ancestry.com to get a DNA test. Like I said, some folks are just curious about their ethnicity and have no desire to compare their results with others. But for the rest of the community, a tree is helpful. More valuable still is a well-sourced public tree. I'm not here to chastise private tree owners. You have your reasons and I respect that. I simply think a public tree will do you good. A public tree means you don't have to be the only one finding the connection. Your cousins can help! So you don't want to open your whole tree up to scrutiny (or you don't have any interest in research and currently don't have a tree on Ancestry), make a direct line family tree public to attach your DNA to so others can see it. It may be all they need to find how you are related. And I mean more than four people here! Your matches are confidently placed within 10 generations (but can be farther back), so put as many ancestors as you know for sure to give them a hand.
Another reason you'll want a tree is that you'll get hints on the DNA page for any common surnames or ancestors. So if you make a tree or already have one, while you wait for your DNA to process, go ahead and check your tree for errors. The test can take 6-8 weeks to process AFTER they receive your kit back at the lab, so you have time to do some house cleaning. Make sure surnames are spelled correctly. Remove any special characters (* _ # $ % &) that can screw up a search. Remove married names from a woman's profile. Either have her maiden name, or leave it blank. UNK or Unknown show up as their own surnames and will not lead to a hint unless I also claim her surname is UNK. Add locations if you have them! The system will show if you have surnames in common, but we all know that not everyone with the same last name is related. If I click on "Brown" in your surnames and you have Michigan listed as a location, I've got a head start on finding our connection. (And if the location says California, I can safely assume that's probably not our connection).
If you find a person who doesn't have a tree or has a private tree (and trust me, you will), give them a message to say hi and ask to connect. If they don't respond, what have you lost but a few seconds of time? If they do, imagine all that you'll gain! So what if you're like some of my friends and don't know what to say? Well here's the form letter I use, you are welcome to fit it to your purposes. (A note, I am now on a third-party site called Gedmatch.com which I will cover in a later post and have added that info to my message)


My name is (name here ). AncestryDNA has matched me to you as a genetic cousin. I have a public tree (link here) on Ancestry.com that you can peruse to see if you notice any common names or locations. If you prefer, I would be happy to do the legwork for you if you invite me to your tree. I have recently added my results to Gedmatch.com (Kit #) if you have uploaded there as well and would care to compare. In any case, I appreciate the time you took to read this message and hope to hear from you soon.

Thank you,

And this seriously works. I've messaged 50 private tree owners and been invited to 10 trees, had 4 tell me of my connection rather than invite, 3 tell me that the test was for a relative and they weren't researching that line, and one tell me straight out that they weren't interested in connecting. Others haven't responded, but I don't take that as a bad thing. Maybe they haven't been on the system lately. I can wait. There's so much to do right now!
My Experience
So now I'll wrap up with what I'd consider the review portion. I ordered the test in early April. It arrived at the house in a week and was back in the mail next day (I had the sample given within minutes I was so excited!). About a week later I received confirmation of receipt at the lab. Early May I had my results. Shown here is my ethnicity mixture. I wasn't surprised by the Central European. And the British Isles was to be expected I guess. I do have an Irish Great Great Grandfather on one side and a British Great Grandfather on another. But the Scandinavian was weird. I can assume that it was an invading Viking force.......... or I can assume that Ancestry's test is a bit skewed, which they have admitted. Either way, I didn't know what I was expecting, but wasn't terribly shocked. I will note that the proven line of Native American and the semi-proven line of Lithuanian (Eastern European) didn't show up. When I remind myself that ethnicities can drop off, it's easier to swallow. This is why family trees and documentation are still so very necessary. DNA won't prove or disprove anything on it's own. It's just one piece of our puzzle.
Since ethnicity was my main focus, I was pretty satisfied with the $99 I slapped down for this test. But I decided to check out the results for matches. Now, I will admit I played fast and loose the first couple of days and when I started to seriously want to connect to these folks, I suddenly felt very overwhelmed. So while your test is processing, make a spreadsheet, get a notebook, do whatever to start your research in an organised way. I took some time and made a spreadsheet with my surnames in it (with locations!) in a column. Then I add each person in a new column and list their surnames. I add those surnames to the first column if new, highlight with grey if matched. If I prove the match, I highlight in blue for dad's side, pink for mom's and green for shared by both parents (they are 3rd cousins afterall). I had one good 3rd cousin match, about 80 4th-6th cousins and hundreds of 7th+ cousins. The 3rd cousin is a private tree and hasn't been on since January, so I hold out hope for her. I've connected to 3 of the 4th cousins and proven them to my family lines (including one private tree owner who had the sister of my 6th great grandmother as his 6th great grandmother, but not her family which I had). I also connected 2 8th cousins via tree hints. The rest are spreadsheeted and I'm working on the remaining 4th-6th cousins at the moment. It'll be work, but it's worth it.
There's so much more to cover, more than I could answer in one post without confusing some and boring others. Thankfully, Ancestry.com has a Learning Center and help section. Here is the link to the Frequent Questions. There is a video there and on their YouTube channel. Read all that you can on the website. Know what you are paying for. Join discussions in the forums and on Facebook pages before and after you test. I have many friends who are interested in the test, but haven't taken one yet. They still belong to many groups including my new one Gedmatch Discussion Group where newbies and intermediaries help each other learn about this and other genetic genealogy sites. Even if you don't join my group, join someone's. Ask questions, everyone has them. There's just so much to know.
I will end by saying that my experience was so positive that I've ordered another test for a maternal cousin. I have made a list with the help of my mother for another of our cousins (to confirm maternal connections), her sisters (one half, one full), and herself. My father has some serious concerns about DNA testing, however, and will not participate. I respect that and am withholding from asking cousins on that side for the moment. Still, the results I've gotten from this test have really helped my research and confirmed a bit of my paper trail. It's also given me a rather scary prospect as some cousins have a surname in their lists that is very familiar to me........... as the possible surname for my grandfather's real father. It's not something I'm ready to pursue at this moment, and I have a Y Chromosome test out on my brother with another company, so I'll back burner that development in favor of other connections right now.
Do yourself one favor, don't backburner a DNA test. The price is right at $99. It's cheaper than it's ever been before. More accessible than it's ever been before. If you are ready for the ride, all you need is to buy a ticket.

27 May 2013

It's a Mad World

My tree

I love graphics. It's easier to explain complicated issues to others with a graphic or two. It's easier to understand them yourself! Sometimes, a good graphic can show you what you're missing. And what we're missing can hurt our research... To the right is my pedigree chart from Ancestry.com. The pink line is my direct maternal line. I am a female, so I can take the mtDNA test and learn about those women back through time immemorial. Unfortunately, I don't have the ability to take the Y Chromosome test (not having a Y chromosome and all), so I've "nulled" my direct paternal line. To find out about those people specifically, I'd need my brother or father to test. But what about everyone in the green section? Every generation back is just going to add more people that the DNA test doesn't find. Suddenly, my maternal line is a small and lonely fraction of what I am.......

Jim's tree
My brother's pedigree chart is a bit more encouraging. He gets the pink line for the mtDNA test. He also gets a blue line for the Y Chromosome test. But that blasted green section! He's still only going to give us a small view of the information now available. What to do? Have no fear, Autosomal DNA is here! Remember, there are 23 chromosome pairs. You inherit one chromosome from each parent for each pair. There is one pair known as the sex chromosomes, and that's where we get the Y Chromosome test. The other 22 pairs are known as the autosomal chromosomes. These are the building blocks of all that we are. And in them is the information of a million lifetimes.

An Autosomal test is sometimes referred to as an Ethnicity test. Now, I've covered the complications of race and ethnicity before, but we're going to cover it again in a different way to help those who need it. Nationality is not ethnicity. Your nationality is where you were born or where you took the oath of citizenship. I'm an American, born and raised in the United States. As you can see in the graphic on the right, so is most of my family. The black boxes are for the unknowns. My grandfather Gibson is illegitimate, so I have no idea about his father. My great grandmother Goff/Gaulf is a bit of a mystery to me. I am not certain of her parentage, although several trees on Ancestry.com are. So I am going to play it safe and say I don't know her parents' nationality either. My great grandmother Lavinski was born in Scotland, and her parents were Lithuanian. When I take the Autosomal DNA test, if I were to mistake nationality with ethnicity, I would expect my pie to be mostly American, with a small portion set out for British and Lithuanian. Now, there's already one problem: American, British and Lithuanian aren't ethnicity options!

Some people confuse heritage with ethnicity. I changed up my graph. I know my grandpa Gibson is half English based on my research of his maternal line going back about 8 generations. I know my grandma was part German, part Irish and part Native American based on research and rumor (I used grey for the rumor). I know my grandpa Householder was part German and part Native American all based on provable research (I used the U.S. flag for the provable Native American heritage). My grandma Brown was part English and part Lithuanian. Note that my great grandma Lavinski has half the British flag and half the Lithuanian flag. She identified herself as Scottish for as long as I knew her. She was born and raised there. For a long time, all I knew about her was that she was Scottish. Lithuania was in her blood, but Scotland was her heart. So my square becomes a jumble of flags, cultural identities, and general confusion. If I took the autosomal test and confused heritage with ethnicity, I would expect to find Native American, German, British, and Lithuanian. But those still aren't ethnicity categories I'm going to find!
So what is ethnicity? When it comes to an autosomal DNA test, it's something deeper than a flag. Something richer than a culture. And something untold by written history. Since ethnicity is so enormous and far reaching, let's warm up our brains with an exercise on a smaller scale. Think of your house. More precisely, the land your house is on. Is there a fence to clearly define the border between your yard and the neighbor? Who placed the fence? Is it your fence or theirs? How long has that fence been there? Imagine your surprise if you were to get the land deed from the county office and find out that fence was on the wrong line. How were you to know? The "real" border is an imaginary line based on land markers and a general agreement between who sold the property and the buyer. That seller had a larger parcel of property that encompassed your house and your neighbor 50 years ago. He bought half your property from someone else. So straight down the middle of your house is another imaginary line from that older property marker. 100 years before that, your property was part of the U.S. government's purchase from France or Spain. 1,000 years before that, it was in the hands of this Native tribe or that. 1,000 years before that, it was used by a different tribe or another. 10,0000 years before that...........
That imaginary boundary has been jumping around quite a bit and for longer than you'll be able to find a paper trail to account for. And that is exactly what the problem is with defining ethnicity for the purposes of genetic genealogy. So how do the researchers define it so they can make tests for us? Well, they make reference populations and complicated math. What is a reference population? They find a living person with proven heritage of one area, say, Lithuania. They test the person's DNA and compare it to others who claim to be 100% Lithuanian and then compare those against folks who are 100% Nigerian, Chinese, French, Russian, Australian Aborigine, etc. The markers that are shared by the Lithuanians but not the other groups are chosen to mean "Lithuanian". But the borders of Lithuania have been fluid and Lithuanians have a shared cultural history with eastern Russia, Poland and the Caucasus. So instead of calling the ethnicity "Lithuanian", the scientists call it "Eastern European" or "Caucasian" or "North East European" or whatever. The names are an arbitrary label placed by the scientist based on the number of different reference populations they sample and what imaginary borders they place on the world to mark one from the other. Genetically, humans are not far enough apart to be so delineated.
When I first heard of autosomal testing, there was something about German heritage being impossible to define. Germany is in the center of Europe. It has conquered and been conquered over and over again since the earliest Germanic tribes. The Celtic culture that many will associate with Ireland, Wales or Scotland is based on the Celtic tribe that conquered the original peoples. The Celts came from the area we now call Germany. There were several tribes from Germany that pushed into different areas surrounding them, leaving a genetic signature along the way. In the early days, the reference populations weren't large enough (or clearly defined enough) to say "this is German, this is British, this is French and this is Scandinavian". They really still aren't. But the companies you can test with do their best and are getting better. So when you take a test now, your ethnicity percentages may change later. You don't change, but the science improves. So you expect British and get a lot of Scandinavian. A year from now, those populations could be better defined and the Scandinavian will reduce. So what to do? Patience, my friend, patience.
And you'll need a lot of patience, because to best utilize the DNA test, you'll need to read and research. DNA tests are of no use without real genealogical research. And not just the "add it because everyone's tree has it". No "I'm just having fun" research. Real "here's the hundreds of hours spent squinting at pieces of paper to prove this person is my relative vs. that other person with the same name" research. Documented, cited, and oft times not found online research. Also, DNA tests are useless without knowledge about the tests themselves and the companies behind them. These posts I'm writing are just a starting point. How deep you dive into your genetic past is dependent upon how much time you research this technology. Join DNA discussion boards and groups. Watch videos. Read, read, read.
What Companies Test Ethnicity?
National Geographic and Family Tree DNA are again a part of the list. We also add 23andMe.com and Ancestry.com. Again, there are several others, but these are the known, trusted, most used ones. I will be reviewing the companies and the third-party tools that make testing useful in upcoming posts. There is so much to read today (and so much when I write about the companies themselves), that I don't want to go too deep into the company part right now.
1. Ethnicity is region specific, not country or town specific. It will not tell you what tribe of Native American or African you come from. Even if the reference population is from Italy, your relatives may not have been Italian. The regions you know are little imaginary lines, not real facts.
2. Ethnicity is not parent specific. You will not be able to tell what part of your ethnicity is your father and what part is your mother based on your test. Research and comparison with other tests will help, but again, this test will not tell you who your real father is. And thanks to pedigree collapse, your parents will share an ancestor or two. So some matches will be related to both sides of your family. Researching the differences between the cousins you know are exclusive to one side and cousins you aren't so sure of will help you complete the picture.
3. Reference populations have grown, but they are still small and based on what people "know" about themselves. As people take this test, their results will help to refine the ethnicity definitions. It's not an overnight thing, however. (Ancestry.com has an alarmingly high Scandinavian error right now that people seem to expect to be "fixed" within weeks. The test is only a year old and it can take a year or more before they can clearly define the margin of error and filter out the incorrect Scandinavian results. I'll discuss this more in the upcoming AncestryDNA post). National Geographic has been doing this for quite a while as a research study. They travel to test isolated portions of the world to better refine the results. Their goal is to test as many people as possible to fully map the migration of man...........talk about a Herculean task!
4. A well-researched tree is necessary. Documented lines for every grandparent, great grandparent, 2nd great grandparent, etc. for 10 generations is best. Very few people have every single person for 10 generations proven and documented, so you will have holes. Your matches may fit in those holes, so don't give up just because you don't see a matching relative easily. They may hold the clues to your greatest mysteries, but you'll have to work together to solve them. And researching your collateral lines (the siblings of your grandparents, great grandparents, etc. down to the last known generation) will help match your distant cousins. Remember, a 1st cousin is related to you by 1 of your 2 parents; 2nd cousins by 1 of your 4 grandparents; 3rd cousins by 1 of your 8 great grandparents; 4th cousins by 1 of your 16 great great grandparents...... do you know all the great grandchildren of all 16 great great grandparents? Do you know all 16 great great grandparents?
5. DNA is more than 10 generations. You could show an ethnicity that doesn't make sense based on your detailed research. It could be an error, but it's just as likely that it's from an ancestor that lived before written history. You could be seeing the last remnants of your 45th grandfather Oook. How do you know? That's right, detailed and thorough research.
6. DNA can disappear. Statistically, you'll share 50% of your DNA with each of your parents. 25% will be shared with your grandparents, and 12.5% with each great grandparent. Thanks to insertion, translocation, deletion and other genetic shuffling, what you share in reality can be a little different than the statistics. Naturally, you'll share 50% with your dad, but during meiosis (the creation of sperm) he may only give you his mother's chromosomes. You could have 0% of your grandfather's ethnicity markers! And that's only your grandfather; what if you're hoping this test will carry the ethnicity of your great great grandparents? You could easily have missed out on their 6.25% contribution! Unfortunately, this means that you may not show that Native American you were desperate to prove. It may mean you missed the markers. A well-researched tree will help. You can compare your results to that of the cousins you'll find and maybe their well-researched tree will have the documentation proving your heritage (or just as likely disproving it).
7. DNA doesn't lie. The companies that test you don't choose your matches based on your tree or your surname. They may match you differently based on what they consider a margin of error or a minimum percent to be considered a true match, but the people they say are your cousins are your cousin. Pedigree collapse could effect the generations calculator, so don't trust that the prediction of 4th cousin is accurate. They could be a little closer or farther depending on how often the family intermarried. Proper genealogy research will help. Since DNA doesn't lie, it could tell you something surprising about yourself. Even though this isn't a test specific to your father's line, you could prove a non-paternity event or adoption simply by what cousins you match. If learning your family isn't blood related will change how you feel about them, DO NOT TAKE THIS TEST. If finding a large percentage of an ethnicity other than you expect will change your personal identity, DO NOT TAKE THIS TEST.
8. There's still a lot of confusion about how genetic genealogy can help/hurt us. You'll need to read, watch, listen............ research. It can be overwhelming. I seriously thought my brain would explode. Take it slow. Don't take everything literally until you've played with it for a while. Know that everyone knows just enough to hurt themselves. Few people are expert enough to give you clear answers. Most groups you can join to discuss DNA for genealogy purposes are started and maintained by enthusiasts just like you, not scientists who run the labs.
Now, I think I need to shut off my brain and take a nap. Get your own pillow.

23 May 2013

All Mama's Children

So last post talked about the Y Chromosome test that can tell you more about your father's direct paternal line. What about mom? Is there something that mom gives her child that dad doesn't? One would assume that if the Y Chromosome worked for dad's line, that the X Chromosome would be mom's, right? I mean, a man has a Y and an X, and the X has to come from his mother.... so .... ya know... solution. Not really. Okay, so there are 23 chromosome pairs. And one pair is known as the sex chromosomes. That's an X and a Y for a boy and two X's for a girl. For those of you noodling this out as we go along, you may have spotted the problem. To get a girl, dad has to give an X too. And because of translocation, during meiosis (the creation of an egg) the girl's X chromosomes can swap genes. So while your mother only passes down one X, she may not get one that is 100% one parent or the other. So how do we find out more about our matrilineal line like we do our paternal?

There is one thing that mothers pass down that fathers do not. Mitochondria. What is it? Inside every cell are these energy producers known as mitochondria. They have their own DNA, which suggests that this organelle may have been a bacteria that evolved to live in our cells. The great thing about the mitochondria having it's own DNA is that it has specific mutations. And because a mother passes down her mitochondria (the father's sperm cells have them, but they are dissolved during fertilization of the egg), this is our best bet for knowing about our mother's direct maternal line. Now, there are exceptions to this rule. Very rarely a man will pass his mitochondria down rather than the woman. Because it does happen, there is some pushback on how accurate we can consider this test. However it's so rare that most people don't worry about it.

Just like "Y Chromosome Adam", there is a "Mitochondrial Eve". Eve lived approximately 200,000 years ago and is the MRCA (Most Common Recent Ancestor) of every living human (on their mother's side). As Eve had daughters, the mitochondria changed and mutated. The mutations are now used to know what branch of the family tree is yours and how you connect to humanity as a whole. MtDNA uses SNPs (Single Nucleotide Polymorphisms), so the results are considered more "ancient". The fact that mtDNA isn't as accurate for recent generations is used by detractors more than the whole "men can sometimes pass down their mtDNA instead of women" thing. But this one's a little harder to refute. I would like to point out that currently it's considered the most accurate matrilineal test we have AND that no test is really useful without real genealogical research to back it up. So don't neglect your documentation just because you take a DNA test!
A mother passes down her mtDNA to all children.
Because mothers pass down this DNA to all their children, sons and daughters can both take the mitochondrial DNA test (mtDNA). You can test to find out about your mother and her matrilineal line, but what if you want to know about her father's mother? Just like the Y Chromosome test, choosing a subject for testing is easiest when using a pedigree chart to help visualise. Above is the same chart we used for the YDNA test. This time, we're hoping to solve the identity of Mystery Mother. Again, the S/P indicates "sans progeny" and those children have died without producing a child to test. You could choose any of her sons or any of her daughters. You can choose any of the daughters' sons or daughters. But notice all of the sons' children are crossed out. The children of the sons will get the mtDNA of the spouse and therefore will not help us find Mystery Mother. So while a male can take this test, testing your brother to find out about your father's mother won't help you. I personally would love it if my father would test his mtDNA so we could know more about his mother's maternal line (another of my little brick walls). My brother is taking the National Geographic test and will have his mtDNA tested for our mother's maternal line, which will help us learn more about our great grandmother's mother (my current maternal brick wall).

So what companies will you be able to get the test from? Just like the Y Chromosome test, the big two are Family Tree DNA (Ftdna.com) and National Geographic. Family Tree DNA is having a sale right now for either introductory Y Chromosome or mtDNA testing for only $49. These are introductory, so they aren't really "useful" to your genealogical research. However, if you have an elderly relative you are worried will pass away before you can afford to get the more detailed tests, this is the perfect way to "save" their DNA for later. FTDNA stores their sample for retesting for years. And you don't have to buy both tests for your male relatives. You will be able to upgrade the Y Chromosome test to a combo test later without having to purchase the separate mtDNA test now. National Geographic is $200 whether you are male or female. Men will get the added bonus of Y Chromosome testing, but both men and women get mtDNA and autosomal testing. There are of course other sites and companies, but these are the most recognised.

An mtDNA test is just like the Y-Chromosome inasmuch as it only traces one direct line (in this case, your mother's mother's mother etc.)

The Caveats
1. This test is considered more accurate for your deep maternal ancestry rather than the recent stuff. It can help you find your mother, but only in conjunction with real research. Even the "Full Maternal DNA" test provided by Family Tree DNA can only get within 9 generations (while a Y Chromosome test at 111 markers can get as close as 4).

2. Because you may need to test another person, be ready to answer questions by doing a lot of research. Be able to tell that other person what company you are using. What the results may show. How they will participate (most tests require the subject not eat or drink before giving a sample). What the realistic turnaround time is. How you will use their results: Do you want to make them public so you can connect to living relatives or will you keep them private and are only satisfying your own curiosity. The more you know before you ask for their help, the more likely they will help.

3. The number of markers matters. An introductory mtDNA test from Family Tree DNA will only get you within the last 28 generations.

4. And more markers means more money. Even at the "high" prices, however, I'd like to point out how affordable DNA research has become in less than 20 years. We couldn't even dream of something like this a mere two decades ago. Be thankful that it costs as little as it does.

5. DNA test are non-refundable. Notice I used red, underlined and italicised bold-faced large font "non-refundable". If you don't like the results, tough tits. The labs aren't out to get you, that's your DNA.

So there you have it. An mtDNA test will get you your direct maternal line just like a Y Chromosome test will get you your direct paternal line. There's still the possibility of a surprise "hiccup" in your ancestry. We're all pretty sure of who our mother is. What if you were adopted and don't know it? What if you are one of those "switched at birth" babies? What if your "mother" is your aunt or grandmother who took you as their own because your mother was a teenager unable to care for you? Just like a non-paternity event (NPE), you have to be ready. And just like before, I can't tell you how to do that. If "family" means "biologically connected", then DO NOT TAKE A DNA TEST. Something this deeply personal requires self-possession, demands the ability to take yourself out of the situation, and insists on a rational mind over an emotional heart. If you aren't strong enough, the current of unbridled truth will take you under and drown you.
Only the brave need jump into this gene pool.