Saturday, May 24, 2014

DNA News of the Week: Are those Cousin Predictions Accurate?

I registered for this.

23andme had its first G+ hangout this week, see the video here. It was an overview of the types of tests they perform on your sample and how to navigate their site. I now have a better understanding of how to navigate their website. I manage my cousin's account. The Q & A at the end raised some interesting questions. CeCe Moore is a genetic genealogist and is very knowledgeable on the subject; most of the hangout was devoted to her site overview. Her answers during the Q & A were very enlightening. The answer to the question about segment size and cM totals, for use in deciding which matches deserve further examination, sparked my interest. I have thousands of matches to review. That list needs pruning if I want to work through the list in my remaining lifetime. I tested with FTDNA in the summer of 2012. Before I read all of the instructions on interpreting results I took the predictions literally. After identifying ancestors out past the 5 generation cut off I actually read the instructions, and found out that remote 5th cousins can be related to you somewhere around 500 years ago.

According to the answer CeCe gave regarding how to pick out your most promising matches she recommended looking for matches who share multiple segments. She also said that large single segments can be very old ; she called them sticky segments. I have a number of matches who share single large segments and we can't find any connection. I assume these are sticky segments from hundreds of years ago. I went into my results and looked for someone who shared multiple segments. I found one with 6 shared segments. I took CeCe's advice on tailoring an email, and sent that person a query. I noticed that match had Tennessee ancestors so I brought that up in the email. I'll see if I get an answer?

I'm new to AncestryDNA and their match confidence predictions. Their predictions are also sometimes quite far off the actual relationship. They try to limit the number of IBS segments by phasing results. This process attempts to identify which segments come from your mother, and which from your father. Long compound segments may actually be made up of smaller segments from your mother and father. Phasing is supposed to identify these segments and break them down to their true size.This phasing process doesn't aways produce accurate predictions. I believe they should do the phasing; but, also let us see where the segments are just in case the phasing didn't produce an accurate result. I found a very low confidence match who I shared 28cMs with. I believe she may relate on my mother's line? She may not be as low confidence as it appeared after phasing. I've noticed that very low confidence matches can share long segments of DNA, or small segments down to around 10 cMs. Phasing isn't perfect, so some good matches can be rated very low.

28 cMs very low confidence match AncestryDNA

Another issue brought up at the 23andme G+ hangout was the low response rate of 23andme matches. Less than half will respond to queries. That is a difficult problem to resolve. I was thinking maybe they need to exclude people who don't share any information from viewing the trees? If you don't share any information at all maybe you shouldn't be able to see other peoples' information? Or maybe they could offer an incentive to customers? If you share your surname or family tree you get to use some cool feature? Maybe some sort of chart function or Gedmatch type utility? I am not going to test with 23andme until more information is given about matches.

I'm looking forward to the Southern California Genealogy Jamboree live stream this year; which takes place June 5. Glad to see a full day is being devoted to DNA. I got my all day viewing pass for the DNA live stream from Jamboree you can register here .

Sunday, May 18, 2014

DNA News of the Week: Can DNA lie to You?

Well, my DNA has never lied to me. I've had people lie to me, but my DNA has been honest with me. Looking at my health related DNA results it show an increased risk for Thyroid disease, and I did get Graves disease 10 years ago. A news report shared by Elise Friedman at Facebook regarding Family Tree DNA brought up this particular question. The reporter said DNA doesn't lie. True, it doesn't but the results are open to interpretation. The report did provide some information I'm always excited to hear about. Bennett Greenspan was briefly interviewed and stated that 1.1 million people have tested through Family Tree DNA and the Genographic project. He also stated they are processing 200 to 300 tests a day. Really great news for those of us who have tested with them. You can listen to the report here.

An interesting blog post regarding the phasing of atDNA results was posted this week. Phasing may help to reduce the Identical by State matches. Read more here at  DNA Genealogy.

I had a very exciting week DNA wise. Larry Forgey's DNA results finally came in after two months of waiting. His results provided very important data for our group at Family Tree DNA. He didn't share the rare mutation my Uncle had. No one else in our group, or our close matches at the Ferguson group have this mutation. It's on a slow mutating marker. If Larry did share this mutation it could have caused a reconsideration of the circumstantial case we've put together for the family. Larry mismatched the modal by one marker. The mutation was on a fast mutating marker. Roger Forgey remains the only person matching the modal exactly. We now need someone to test in the William Forgey of PA line, and we need more testers to help resolve the NPE's in the John Forgy PA line.

One of the best tips I got regarding working with the AncestryDNA results is the AncestryDNA Helper. It a chrome extension which gives you more tools to work with to analyse your results. You can download your matches along with their ancestral info. You can also use the search functions which the extension adds to your pages to search using user name. You can also search your notes. The surname search, however, doesn't work as well. The Ancestry search actually works well now. 

I was able to see, visually, the difference between the number of matches at Ancestry and Family Tree DNA when I made these charts. Ancestry has a much larger pool of testers to match with. Here are the notes I made when reviewing my results. 


Family Tree DNA

I have found more connections at Ancestry. I do have some good matches at Family Tree DNA also, just not as many. 

I had two great matches this week. My first confirmed DNA match from Burgenland, Austria showed up this week. It was at Family Tree DNA so I was able to triangulate, and found two more possible Burgenland related matches. I also got my first Del Castillo match (my grandmother Forgey's maiden name). I had an Arguello match before. This Del Castillo match is Del Castillo Arguello. They are also related to the Chamorro family. Violetta Chamorro was President to Nicaragua. My Del Castillo family was also part of the ruling class in Nicaragua. 

Hopefully we'll have more testers soon, and more results to look forward to!  

Tuesday, May 13, 2014

DNA News of the Week: What is really Provable?

The names in red  represent lines I've had DNA matches on. I've had a Forgey matches out past  my paper trail.

An important statement recently regarding DNA standards and ethics, which was recently drafted, was brought up at  last week's NGS conference. You can read more about it here at The Legal Genealogist's blog. It raises questions about how test results should be used and interpreted. I was aware of the possibility of NPE's back in 2011 when I started DNA testing relatives. I didn't have to deal with any of these events until recently. The possibility of uncovering long forgotten family secrets is a bomb shell issue, and not my favorite part of the process. So we are all trying to navigate this booby trapped maze. Advice on handling our results is appreciated.

Another very interesting bit of information coming out of the NGS conference regards ancestral predictions at AncestryDNA. AncestryDNA had been using megabase matches to predict relationship degree. Fall 2013 they switched to using centimorgans. Anyone testing earlier than that still has results based on megabases. Another hint coming out of the conference was that Ancestry does intend to offer more tools to better analyse your results. Doesn't sound like a chromosome browser? We'll have to wait and see how useful they are? You can read more about what was gleaned regarding AncestryDNA at NGS from CeCe Moore's "You Genetic Genealogist" blog.
It was confirmed in the past week that Family Tree DNA did give a couple of customers the wrong DNA results due to samples becoming switched. I think the error rate is generally low, from what I hear. It is probably best to confirm your results with a second company if your results don't make sense. 

Since myOrigins came out last week I've done more reading about the admixture results the DNA companies provide. As everyone agrees the sample populations are still too small to base any definite conclusions. Also as the Genographic project puts it if you are very mixed ethnically, the results can become very complicated. 

A very interesting blog post about the new myOrigins utility was posted at the DNAeXplained-Genetic Genealogy blog. I borrowed Roberta Estes' idea, and chart, to see if I could infer my father's likely results. I came out with a 30% difference, meaning I didn't inherit this DNA from my mother. It was an interesting exercise, the differences became very apparent when I charted them. All of this is really speculation at this point. We'll see how much more unambiguous the results can become?

I borrowed Roberta Estes' chart to compare our results. Undetermined was 30. 

So what can we definitely prove with DNA without question? 
  1. With Y DNA we can prove a definite relationship between two men. We can only estimate when that relationship occurred. 
  2. With mtDNA we can also prove two people are related, and estimate when.
  3. atDNA can prove relationships in the past few generations, and we can speculate on possible relationships beyond that. This test requires a family tree going back at least 5 generations and preferably 11. 
  4. As far as admixture results we can only predict European, African, Asian and Native American ancestry with a high degree of accuracy. We can't reliably predict any more precisely than those broad areas. 
  5. Y DNA is more reliable in giving us more precise ancestral locations. SNP's provide us with the possibility of finding a very specific ancestral locations.
  6. Solid DNA matches can prove our paper trail. DNA without a paper trail proves nothing, and a paper trail without DNA confirmation doesn't prove a blood relationship. 
My DNA goals:
  1. After attempting to reconstruct possible results for my father I've decided I need to find a stand in for him. I will try to get one of his 4 sisters to test.
  2. We need more Forgey/Forgy & Forgie men to take the Y DNA test. We need at least one confirmed haplo for each line. We can also use more atDNA testers
  3. I would love to find more Owens DNA matches. So far I do have one moderate match at AncestryDNA. We may need to recruit more Owens relations for DNA testing.
  4. I don't have any matches on Urmey, Brower, or Hicks. Since AncestryDNA's surname search doesn't work reliably (meaning it doesn't bring up every instance of the name you are searching for) I need to page through all my matches looking for these names
  5. I am also attempting to breakdown my Sarah Campbell brickwall. I found a couple of moderate DNA matches at AncestryDNA which may lead to a breakthrough. 
So what have I proven to date using DNA? I now know that my Forgey family was Scottish. We used SNP DNA testing to prove this. We also know that the most common Haplogroup for the Forgeys is I-L126. We know Andrew Forgey of Maury County, Tennessee, Andrew Forgey of Hawkins County, TN and Samuel Forgey of North Carolina are definitely related. These men were also related to a Forgie family of Co. Down , Ireland. The surname did derive from Ferguson and our group has close matches with the surname Ferguson. My Forgey family, along with the others have had no NPE's since around 1600. I've confirmed my blood relationship to a number of my lines (see pedigree charts). I've discovered Native American, and African ancestry. 

Still waiting on a YDNA result at FTDNA. This test is taking much longer than usual. I'm hoping they don't have to rerun it? I was thrilled to learn I may be able to breakdown a brickwall on my Thurman line when a descendant in my line takes a Y 37 marker test. Hoping his test comes back sooner than our last test! 

Tuesday, May 6, 2014

DNA Extra: Ancestors Falling through the Cracks

My Grandfather Rudolph and children
The Inzenhof Koppel Family had an interesting look.
Some family tended to a dark complexion, others were very fair.

Well I seem to have found my Iberian ancestors at myOrigins. The heat maps now include Spain. It still puzzled me why my Mom only has 10% Mediterranean? The description of population reference groups at the Genographic project cleared my confusion up. The average Iberian only has 48% Mediterranean. Their DNA is so similar to Northern European you can't tell it apart. They also have some small amounts of Southwest Asian.

This may also apply to my Kapple or Koppel ancestors? Koppel is an Ashkenazi surname. The family lived on the border between Austria and Hungary. Everyone believed they were Ashkenazi based on the surname and the Semitic look of some of our family members. This is not showing up in my DNA. Ancestry did find less than 1% of Ashkenazi DNA. I have 4% Middle Eastern DNA which may related to the Kapple side of my family? It's not showing up in my Mom's results. Her Middle Eastern isn't from North East Africa like mine. I do have 8% Eastern European, but I'm sure which side this is from? I know few people in the Koppel village area have taken any kind of DNA test. A few have taken a Y test. My Kapple cousin Darryl's Y DNA is J2B. I'm thinking the problem using DNA to find our Koppel ethnic heritage relates to not enough data. The chart Doug McDonald gave me a few years ago showed areas marked not enough data which may relate to the Koppel DNA?

More Koppel Family

Monday, May 5, 2014

DNA News of the Week: MyOrigins vs AncestryDNA


Finally we got a look at the new myOrigins ethnicity charts, which replaces Population Finder at Family Tree DNA. Sorting through all this brings to mind talk show guests who purport to communicate with dead relatives. They ask audience members, for instance, do you know someone with an R in their name. Is it a male? Is his name Robert or Roger? Not too impressive. The DNA companies do tell us instead of asking about our ancestors origins. At the same time giving themselves plenty of wiggle room by not completely committing to anything specifically. You might be told some your ancestors were from Italy. The fine print says give or take a few thousand miles. Basically your ancestors were from Europe somewhere, but who knows exactly where? That's difficult to exactly pinpoint with DNA. Broad regions can be predicted reliably however.
Actually the old Population Finder results came close to committing to a specific area. My mother was said to be 18% Mozabite with an error rate of less than 1%. Her new results have completely backed away from that. She now has 10% Mediterranean and  8% Middle Eastern. Only 2% is now in the Morocco/ Algeria area. My Middle Eastern is only 4% now, and it was 13% with a high level of confidence. So the old Population Finder was quite inaccurate. We should have been given margins of error close to 50%.
Turning to our head to head competition between AncestryDNA and myOrigins; we find we need to translate the regional descriptions in order to compare. Western Europe seems to be covered by European Coastal Plain.

Round 1. European Coastal Plain at myOrigins and Western Europe at AncestryDNA. This is where we see the most stark contrast. Ancestry only gave me less than 1% for this area. My Origins gives me 50% for this region. Both could make some sense. I do have a substantial number of French Canadian and German matches, which could point to my inheriting more DNA than would be expected considering how far removed I am from these ancestors. Ancestry does say I could have plus 3% since they do present a margin of error. If you calculate shares of inheritance based on generations I could have around 3% of German and combined French? I could have inherited more than that, but I would not think it would be 50%. I would have to give that round to Ancestry.

Round 2. Our next round considers British Isles ancestry. Ancestry breaks that down between Britain and Ireland. Combine these two result I get 60% British Isles. MyOrigins gives me 29%. I would say 29% would be closer if you break my heritage down by generation. That round goes to MyOrigins. Ancestry gave themselves lots of wiggle room on this one with high margins of error however.

In Round 3 we compare Eastern European results. Here we have a tie with both results around the same percentage. AncestryDNA gives me 6% with a high margin of error, and myOrigins gives me 8%.

Round 4 Scandinavian. I am not aware of any Scandinavian in my family. I've heard that Ancestry gives unusually frequent results, and high percentages for Scandinavian. I will give them the benefit of the doubt and assume this relates to the Vikings in Scotland. This round goes to AncestryDNA.

Round 5 Finland/ Northwest Russia. May relate to Hungarian? This round goes to AncestryDNA. No comparable myOrigins result.

Round 6 European Jewish. I would give to AncestryDNA because I believe there should be a trace of European Jewish which myOrigins does not show. I would like to see myOrigins show more trace regions.

Round 7 Pacific Islander Melanesia. Don't know what to make of that? It's only 1% but is completely puzzling to me? myOrigins didn't show an equivalent. I'll just scratch this round.

Round 8 Middle East is another tie round with both results very close. AncestryDNA gives me 5% and myOrigins gives me 4%. The edge does go slightly to myOrigins because they gave me a more specific area. Half point extra myOrigins.

Round 9 Native American is also very close. AncestryDNA gives me 6% and myOrigins gives me 3%. I'll give this round to AncestryDNA because FTDNA pulled their old estimate of 5.2% Native American and their specific result of Central American Native American. The old estimate had a low margin of error and I don't know why they are backing down on that?

Round 10 Africa. This result leads me to believe that the myOrigins populations are becoming more accurate. I had no African with their previous Population Finder. My mtDNA turned out to be African, so it's confirmed we do have some African. Both AncestryDNA and myOrigins give the exact same result of 2%. Half a point to AncestryDNA for a specific location Senagal. It's a tie round otherwise.

Round 11 Mediterranean. Ancestry gives me 7% and myOrigins 3%. I tend to go with the higher results because my cousin's Y DNA of J2b pointed us in that direction. I would give this round to AncestryDNA.

Round 12 Iberian. This isn't an area well covered by the new myOrigins. Ancestry gives me 5%, which I believe should be higher since one of my Grandmother's, Graciela Del Castillo, would have had a high percentage of this regional DNA. This round goes to AncestryDNA.

Final results Ancestry gets 7 1/2 points and myOrigins gets 1 1/2 
Plus 3 tied Rounds. 

myOrigins is brand new and I'm sure changes will be made at some point which may reconcile some of my results. 

Below are some charts I made. The first compares my percentages between AncestryDNA and myOrigins. The second would be a chart I made showing my known ancestral breakdowns.

Comparison Between myOrigins and AncestryDNA

My knowledge of my Ancestry