Tuesday, April 11, 2017

California Here We Come!



In early June Denise and I will embark on what has become an annual trip to California. The timing for this is anchored to include the conference of the Southern California Genealogical Society: 
For the last four years this conference has been enhanced by including an all day pre-conference that is focused solely on genetic genealogy. For full details click here:
On that DNA Thursday I will be making two presentations and taking part in another event.

Family History Plus Health History Leads to Personalized Healthcare
Genealogy records family relationships. Health history reveals causes of death, disabilities, chronic diseases, or known genetic disorders within families. How can you build an accurate family health/medical history? Should you? Can genealogists lead the way to personalized healthcare/medicine? Level: Beg., Int., Adv. (David R. Dowell, PhD)
Was Henderson Dowell's Father of African or European Descent?
At Emancipation Henderson Dowell of Wilkes County, North Carolina, was 20 years old and enslaved by Pricilla Dowell. His living descendants are mixed African-American and European-American. Did his paternal ancestors come to America from Europe or from Africa? Level: Beg., Int. (David R. Dowell, PhD)
Meet the DNA Authors
Get acquainted with the authors of recent DNA books. Learn what is covered in each book.
(Emily D. Aulicino, MA); (Blaine T. Bettinger, PhD, JD); (David R. Dowell, PhD)

Friday I get to go from presenter mode to learner mode in an all morning workshop.
Autosomal DNA Chromosome Mapping and Phasing Workshop
This workshop will review ways in which autosomal DNA can be mapped so that DNA segments may be attributed to individual ancestors. Participants will be shown how to begin or continue the process of mapping their DNA. In addition, techniques for phasing their DNA will be demonstrated. Level: Adv. (Tim P. Janzen, MD) Participants need to bring laptops to the workshop loaded with Excel or other spreadsheet program.

Later Friday I get back on the other side of the mike for a panel discussion.
DNA and Genealogy: Experts Discuss Latest Developments
DNA testing experts will discuss the connection between DNA testing and genealogy, what tests are available, and which companies provide which tests. Advances being made in the field of Genetic Genealogy will be examined. Audience questions will be answered in the second half of the program.
Level: Beg., Int., Adv. Moderator: Alice M. Fairhurst, MS, Panelists: Angie Bush, MS; David R. Dowell, PhD; Debbie A. Kennett; Drew Smith, MLS; Diahan Southard

The Family part of the trip

While I am conferring, Denise will be visiting her sister and brother who live nearby. Also on Friday our non-biological grandson, Cameron Adams, will be graduating from San Luis Obispo High School. He also happens to be my 10th cousin -- twice removed. We will also help him celebrate his birthday on Sunday. 

On Monday, in what is becoming an annual tradition, we will meet a group of our former neighbors and friends for lunch at the Great American Fish Company at the T-pier in Morro Bay where the sea otters have been in great abundance this Spring.

Tuesday we plan to have a late lunch with two newly discovered 4th cousins. One of them is a former colleague I have known for years but had no idea we were related until last Fall. The other will be flying in from Texas for the occasion. They are half-sisters who met for the first time in November. For their story see here.

The following morning we will fly back to Nashville exhausted but with many memories to cherish.
 

Friday, March 31, 2017

Why don't I have as many DNA matches as ....?



It seems that almost daily someone writes on one of the Facebook genealogy sites, "Why don't I match the person that my relative does?" We have the stock answers that include autosomal DNA is inherited in a random manner. Rarely have I seen this so vividly illustrated as in the results of two of my grandsons. In earlier posts the last several days, I have pointed out that each of them inherited different amounts as well as different segments from each of their four grandparents. If this much variation can occur in just two generations, it can really be skewed as it is compounded over four or five generation.

The first of my three previous posts on this subject demonstrated that grandchildren do not inherit equal amounts of atDNA from each grandparent although it appears that each set of grandparents contribute 50%. To review this post click here.

In a follow-up post I demonstrated that these variances of amounts of atDNA inherited by grandchild can alter ethnic predictions between full siblings. To review this post click here.

In yesterday's post I used Family Finder's chromosome browser tool to illustrate how each segment larger than 5 cM of DNA was inherited by each of my grandsons from each set of their grandparents. To review this post click here.

After my post yesterday, Ann Turner asked if I would be willing to do more analysis on the matching segments the two of my grandsons inherited from their four grandparents by dropping the threshold from 5 cM down to 1 cM. In preparing the data to send to Ann for her analysis, I noticed that the two grandsons had vastly different numbers of matches on Family Finder. One had 23% more than his brother. These numbers were not trivial. One had almost a thousand more than the other. How could this be if they were really full siblings?

It largely depends on who is in the database. Groups from different parts of the world are unevenly represented in various DNA databases. The FTDNA database has a disproportionally heavy presence of Ashkenazi Jews. The maternal grandfather shown below has a high percentage of Ashkenazi ancestry. FTDNA has been able to identify about 90% of his atDNA as being of Ashkenazi origin. His number of matches in the database far exceed the number of matches reported from any of the other three grandparents. Conclusion: the grandson who inherited the most DNA from his paternal grandfather will have the most matches in this database.

Grandson #1 below only inherited 22.1% of his atDNA from his maternal (Ashkenazi) grandfather. Statistically normal would be 25%. He did dip into the treasure trove of Ashkenazi results in the database. 18% of his DNA is shown to be of Ashkenazi origins. However, he did not inherit DNA of that origin to the extent his brother did. This grandson inherited 28% of his DNA from his maternal grandmother whose ancestors came from areas of Central Europe that are underrepresented in this database. She currently has less than 400 matches. So the combination of the DNA he inherited from his grandmother (along with her scant matches) and did not inherit from his grandfather was largely responsible for him having over 900 fewer matches than his brother. 

Matching  Relatives
Total
Paternal
Maternal
Both

Grandson #1
3,930
935
1,338
1
Grandson #2
4,831
797
1,957
1

Paternal Grandfather
2,682
247
478
6
Paternal Grandmother
1,956



Maternal Grandfather
10,185



Maternal Grandmother
390
83



Mother
5,578
3,530
47
2
Father
2,397
785
739
7

Grandson #2 inherited 26.2% of his atDNA from his Ashkenazi grandfather. That may not sound like a big difference. However it is approximately a 19% increase from the amount inherited by grandson #1.

Even though the maternal grandfather seems to have won the lottery with more than ten thousand DNA matches, his pedigree chart is so short that we cannot yet begin to sort any of those matches into paternal and maternal ancestors.

The paternal grandmother has an extensive pedigree chart; but as yet she has not added it to her Family Finder account.

The mother (my daughter-in-law) seems to have the number of matches that is near the average of her Ashkenazi father and her match deprived mother.

The father (my son) also seems to have the number of matches that is about the average of his parents.

Why do you have the number of autosomal matches that you do?



Thursday, March 30, 2017

Grandsons' DNA continued



Earlier this week I made a free transfer of two of my grandsons' atDNA results from MyHeritage to Family Tree DNA (FTDNA). Since the lab testing for MyHeritage is done in FTDNA's Houston lab, this is a fairly seamless process. As with any new procedure there were a couple of minor obstacles. FTDNA had yet to upgrade the Autosomal Transfers entry icon to mention that MyHeritage kits could also be transferred.



Also, there were no instructions that the "-" needed to be removed from the MyHeritage kit number before FTDNA could be identified and validated. Example: MH-XXXXXX needed to become MHXXXXXX before the transfer could be initiated. These transfers were completed within a few hours and allowed me to use Family Finder's chromosome browser tool.

I was then able to continue my learning process which had begun a couple of weeks ago when I received access to these results at MyHeritage. My previous posts demonstrated that grandchildren do not inherit equal amounts of atDNA from each grandparent although it appears that each set of grandparents contribute 50%. To review this post click here.

I then made a follow-up post in which I demonstrated that these variances of amounts of atDNA inherited by a grandchild can alter ethnic predictions between full siblings. To review this post click here. If these changes sometimes can be observed within only two generations, we can only imagine how they could be skewed over five or six generations of compounded random inheritance. This explains a big part of the differences between ethnicity predictions of full siblings.


On to the Chromosome Browser
Using Family Finder's Chromosome Browser tool, I examined the contributions each set of grandparents made to each of the two grandsons. This process allowed me to visualize things I sort of knew intellectually:


  • Each set of grandparents combined to pass down 50% of the grandchild's atDNA but the grandparents within each set did not contribute equal amounts;
  • Each grandparent's contribution to full siblings differs -- sometimes in measurable amounts;
  • There really are two different strands of atDNA inherited by children -- one from the father and one from the mother;
  • We can visualize the "crossovers" on the paternal and on the maternal strand of atDNA inherited by the grandchildren and thereby trace which part of the grandchild's atDNA was inherited from each grandparent; and
  • Grandsons do not inherit any xDNA from their paternal grandparents.

Maternal grandparent contribution
In this image the atDNA contribution of maternal grandparents are charted for grandson #1. Note that xDNA was inherited from the maternal grandparents through the child's mother. In this case about 28% of the grandson's atDNA was inherited from the maternal grandmother (represented by the orange bars). About 22% came from the maternal grandfather (represented by the bright blue bars). Crossover points are clearly visible where the contributed atDNA shifts from the maternal grandmother to the maternal grandfather on this maternal contributed strand.
In this image the atDNA contribution of maternal grandparents are charted for grandson #2. Note that xDNA was inherited from the maternal grandparents through the child's mother. In this case about 26% of the grandson's atDNA was inherited from the maternal grandfather (represented by the orange bars). About 24% came from the maternal grandmother (represented by the bright blue bars).


Paternal grandparent contribution

In this image the atDNA contribution of the paternal grandparents are charted for grandson #1. Note than no xDNA was inherited from the paternal grandparents through the child's father. In this case about 28% of the grandson's atDNA was paternal grandfather (represented by the orange bars). About 22% was inherited from the paternal grandmother (represented by the bright blue bars).    

In this image the atDNA contribution of the paternal grandparents are charted for grandson #2. Note than no xDNA was inherited from the paternal grandparents through the child's father. In this case about 26% of the grandson's atDNA was paternal grandfather (represented by the orange bars). About 24% was inherited from the paternal grandmother (represented by the bright blue bars). 


Ashkenazi Origins

One other item of interest to report came out of this exercise. Family Finder identified more Ashkenazi DNA from both grandsons than did MyHeritage. One grandson appears to have inherited about 22% of his atDNA from his primarily Ashkenazi grandfather. No other grandparents have been shown to have any Ashkenazi inheritance. Family Finder Identified about 18% of this grandson's atDNA to be Ashkenazi.

The other grandson appears to have inherited about 26% of his atDNA from that Grandfather. Family Finder identified about 21% of this grandson's atDNA to be of Ashkenazi origin.


MyHeritage had identified  the first grandson to have 10.8% Ashkenazi and the second one to have 17.5%.




Saturday, March 25, 2017

Ethnic Origins Predictions Affected by Random Autosomal Inheritance



Predictions of our ethnic origins are one of the biggest draws to get people to order a DNA testing kit. Almost all of these predictions are based on our autosomal DNA. That's the only DNA tested by Ancestry, 23andMe and MyHeritage. Family Tree DNA offers these predictions as part of its Family Finder test results. Marketing surveys suggest that more more than half of millennials who take genealogy DNA tests are doing it only or primarily to find out whether they should be wearing kilts or lederhosen to the next family gathering. 

In spite of the warnings of prominent genetic genealogists that these projections at present are one of the softest parts of the science of genetic genealogy, the advertising seen on television and elsewhere continues to emphasize predictions of ethnic origins. 

The Legal Genealogist, Judy G. Russell, is one of the most outspoken critics of the credibility of the predictions we are given. In an August 14, 2016 blog post "Those Percentages, if you must", she reiterated:
The Legal Genealogist says that the ethnicity estimates part of autosomal DNA tests are not a whole lot more than cocktail party conversation,
It just doesn’t seem to matter.
Really.
You can’t rely on DNA tests to give you exact percentages of your ethnic origins beyond the continental level (European, versus African, versus Asian).
 
Judy's conclusion is a valid one. Part of the problem is that this part of our science is still immature: 

  1. The population geneticists really can't tell us where all of our ancestors were living 500 years ago;
  2. Very few of us have pedigree charts that inform us about who all of our genealogical ancestors were in 1500 and where they resided; 
  3. Although atDNA tests generally sample 500,000 to 700,000 locations to make these ethnic predictions, this is a small percentage of our entire genomes; AND   
  4. Inheritance of our atDNA is random.
We all know that we inherited 50% of our atDNA from our fathers and 50% from our mothers. But how many of us know how much of our atDNA we inherited from our maternal grandfather? Would this make a difference in our predicted ethnicity? Of course it would.

Last month I published results from atDNA tests taken by two of my grandsons at MyHeritage. They are full siblings. Their other grandfather is primarily Ashkenazi. His Family Finder origins prediction is shown below. 




None of the other three grandparents show the presence of any Ashkenazi genetic component in their Family Finder results. My daughter-in-law was reported in her Family Finder results to be 42% Ashkenazi. [23andMe reported 48%.] Although I am not comparing apples to oranges in this post, I may be comparing different varieties of apples to each other by comparing testing results from three different companies. However, different family members have tested at different companies. These cross testing companies comparisons should not effect my main point in this post. If you have data that would dispute that, please share and we all will learn something.

My main point is that my grandson who appeared to inherit only 22% of his atDNA from his Ashkenazi grandfather in my previous post, was shown by Family Finder to have significantly less Ashkenazi ethnicity than did his full sibling who appears to have inherited 26% of his atDNA from that grandfather. 

This is an extremely small sample and the results may be distorted because results from different companies are being compared. However, I encourage you to try this at home if you have test results reflecting the difference between the atDNA inheritance patterns of sibling grandchildren. The result I report above is in accordance with what common sense would lead me to believe. If you have results that would support or refute this tentative hypothesis, I would love to see it. Maybe we all will learn something.


Saturday, February 25, 2017

Grandsons' atDNA Inheritance: A Case Study



If you are familiar at all with genetic genealogy, you know that children inherit 50% of their autosomal DNA (atDNA) from their mother and 50% from their father. You also may know that while children inherit about 25% of their atDNA from each grandparent, these amounts may vary.

I recently had the opportunity to compare the amount of atDNA shared by two of my grandsons with each of their four grandparents and with one great-grandparent -- father of their maternal grandmother:


P-GF P-GM M-GF M-GM M-GGF
G-son A 1852.9 cM 1731.5 cM 1882.2 cM 1719.8 cM 727.2 cM
25.8% 24.1% 26.2% 23.9% 10.1%
G-son B 2025.7 cM 1558 cM 1584.9 cM 2017.4 cM 885.4 cM
28.2% 21.7% 22.1% 28.1% 12.3%


As you can see above, the percentage actually shared by each grandson with each grandparent varied from 21.7% to 28.2%. No big surprises there. We have long been told that after the first generation the amount of atDNA inherited is somewhat random and varies from one grandparent/grandchild pairing to another.

Note also that the amount inherited by both grandsons decreased by more that 50% between the amount they inherited from their maternal grandmother (M-GM) and her father (M-GGF). In this case the decrease seemed to be in proportion to the amount they had inherited from their maternal grandmother but I don't think we can come to any solid conclusions from this very small sample.

One thing did jump out at me that I had never though about before. As I mentioned above, it is well known that all children receive 50% of their atDNA from each parent. However, it had never occurred to me that all grandchildren inherit 50% of their atDNA from each pair of grandparents. While the amount inherited from each of the four grandparents may vary considerably, the amount inherited by the maternal grandparents combined or from the paternal grandparents combined will add up to 50%. It is a logical conclusion but not one that I had thought about before.  

Now I'm pondering to what extent this principle can be extended. For example, can we calculate how much atDNA my grandsons may have inherited from the mother of their maternal grandmother (M-MG). Can we conclude that each of the grandsons inherited 25% combined from the parents of their maternal grandmother? That would be useful, if true, because we only have DNA test results from one of the great-grandparents.

I'm still pondering how far, if at all, this bonded inheritance can be extended. Do any of you have data and/or thoughts? 


Saturday, February 11, 2017

The Winning Innovators for 2017 Are





Last year a big portion of the $100,000 in cash and in-kind support from the Innovation Showdown at RootsTech 2016 went to TapGenes which has continued to develop its product and outreach for those seeking to organize and share family health information. 

This year 40 contestants from the US, Europe and Canada entered the competition. Ten semifinalists were invited to compete this week in Salt Lake City during  the world’s largest family history technology conference. In case you want to look back at those semifinalists now, you can look at my earlier post where the ten are listed with links to where you can find more information.

Judging focused on both the promise of the product as well as the soundness of the business model. Each contestant had two minutes to present the product. Then the panel of five judges had a combined two minutes to ask questions or make comments. If you are familiar with the television show Shark Tank on ABC, you should be able to visualize this format. 

Although the originally announced prize pool of $100,000 in cash and in-kind support was impressive, three new sponsors emerged and enabled the awards to swell to almost twice that amount. The new sponsors were Amazon Web Services (AWS), Kickstarter Seed Fund and Sorenson Legacy FoundationFriday the five finalists competed before a live audience and those watching via streaming around the world. Both those in Salt Lake City and those streaming were able to text their choices. Interestingly, the people's choice and the judges choices were different.


2017 RootsTech Showdown Winners



  • First Place Judges’ Choice ($90,000 cash, AWS credits, and an investment from Kickstart Seed Fund), Bill Nelson of OldNews USA.





  • Second Place Judges’ Choice ($44,000 cash and AWS credits), The Qroma tag mobile app for embedding stories into pictures, tagging them by voice commands, and making the data accessible on various platforms.
  • Third Place Judges’ Choice Award ($26,000 cash and AWS credits), Louis Kessler, Double Match Triangulator, an app to help sort autosomal DNA matches into groups of relatives.
  • People’s Choice ($25,000 cash and AWS credits), Kindex, an app designed to help users create searchable, shareable archives of family letters and other documents using tags to help users easily locate information.


  • The distinguished panel of judges were: 

    Kenyatta Berry, Co-host of The Genealogy Roadshow
    Al Doan, Co-founder and CEO of Missouri Star Quilt Company;
    Thomas MacEntee, Founder of High Definition Genealogy;
    John Richards, Founder and CEO of Startup Ignition; and
    Dalton Wright, Partner in Kickstart Seed Fund.


    More information about the awards competition can be found in the press release.

    Keep in mind that the overall winner may not be the new product that will be the one most useful to you in your research. 


    Thursday, February 9, 2017

    The Innovation Showdown Finalists Are....



    Last year a big portion of the $100,000 in cash and in-kind support from the Innovation Showdown at RootsTech 2016 went to TapGenes which has continued to develop its product and outreach. Today the ten semifinalists competing for a similar windfall of support and recognition were winnowed down to the five who will receive final consideration on Friday. By the end of the week the 2017 winner will be announced.

    In case you want to look back at those semifinalists now, you can look at my earlier post where the ten are listed with links to where you can find more information.

    Judging focused on both the promise of the product as well as the soundness of the business model. Each contestant had two minutes to present the product. Then the panel of five judges had a combined two minutes to ask questions or make comments. If you are familiar with the television show Shark Tank on ABC, you should be able to visualize this format.

    These five projects were advanced to Friday's final round. The prize pot is being expanded beyond the announced $100,000. Three new sponsors just signed on. More information about this significant financial and in-kind support will be announced in a day or so.


    Double Match Triangulator (DMT)

    An autosomal DNA analysis tool for genealogists   From Canada.

    Emberall

    Capture, organize, store and share the life history of a loved one - from your smartphone in as little as 30 minutes!  caption


    Kindex

    Accessible, searchable archives for everyone through collaborative record sharing and indexing. 

    OldNews USA

    The easiest way to find your family in historic newspapers - on your phone!

    QromaTag

    Add your story to any photo using your iPhone and your voice.
    Digital tagging of family photos with metadata and linking to GEDmatch files



    As the winner is announced I'll update the list and add more information. If you are among the fortunate twelve thousand or so of my closest genealogical colleagues who have joined me in Salt Lake City for RootsTech, you will have a chance to "kick the tires" and "look under the hoods" of these new products over on Innovation Alley (through the turquoise gateway over the entrance on the left below) in the Exhibit Hall.



    If not fortunate enough to be in Salt Lake, I'll update you as the competition unfolds. Keep in mind that the overall winner may not be the new product that will be the one most useful to you in your research. 


    Saturday, February 4, 2017

    Now There Are Ten Innovation Semifinalists



    Last year a big portion of the $100,000 in cash and in-kind support from the Innovation Showdown at RootsTech 2016 went to TapGenes which has continued to develop its product and outreach. This year there are still ten semifinalists competing for a similar windfall of support and recognition. That number will be reduced to those to receive final consideration by the middle of next week. By the end of the week the 2017 winner will be announced.

    In case you want to take a peek at those semifinalists now, I have listed them below in alphabetical order with links to where you can find more information: 


    Champollion 2.0

    The scribe for savvy paleographers   

    CSI: Crowd Sourced Indexing

    Small organizations need an easier way to manage their indexing projects, and this is it. 

    Cuzins

    Cuzins is a mobile app that shows how you're related to friends & celebrities, and how they're related to each other

    Double Match Triangulator (DMT)

    An autosomal DNA analysis tool for genealogists   

    Emberall

    Capture, organize, store and share the life history of a loved one - from your smartphone in as little as 30 minutes!  caption

    JoyFLIPS

    We combine easy photo scanning, voice storytelling, and AI that brings in relevant historical data from everywhere   

    Kindex

    Accessible, searchable archives for everyone through collaborative record sharing and indexing. 

    OldNews USA

    The easiest way to find your family in historic newspapers - on your phone!

    QromaTag

    Add your story to any photo using your iPhone and your voice. 

    RootsFinder

    Family history for the whole family 


    As the finalists are announced and I've had a chance to examine each product and talk with its developer(s), I'll update the list and add more information. If you are among the fortunate ten thousand or so of my closest genealogical colleagues who will be joining me in Salt Lake City for RootsTech, you will have a chance to "kick the tires" and "look under the hoods" of these new products over on Innovation Alley (through the turquoise gateway over the entrance on the left below) in the Exhibit Hall.



    If not I'll try to update you as the competition unfolds. Keep in mind that the overall winner may not be the new product that will be the one most useful to you in your research. 


    Saturday, January 28, 2017

    Genealogists as Lifelong Learners -- Part 1



    All serious genealogists are lifelong learners. There is always more to learn about our families. You have probably learned by now that there is no such thing as a done genealogy. If you are successful in breaking through a brick wall, your reward is that your previously blocked line has now split into two lines to be followed.

    There is also always more to learn about the craft of genealogy. None of us can be experts in all areas. Have you made any New Year resolutions about adding to your genealogy tool kit in 2017? If not there is no time like the present to make a short list of new skills you would like to acquire. Fortunately there are a wide and growing array of opportunities for learning that can be tailored to any learning style, budget or locale. These include from books, blogs, cruises, conferences, institutes, research tours, social media and webinars. The list seems to grow longer every month. Below are a few examples. Let's see who I can offend by leaving their favorite off the list.

    Big conferences include:
    1. RootsTech which has grown to more than 10,000 in person attendees from every state and numerous other countries. FamilySearch is the organizing force behind this relatively new conference. Usually held in February and always in Salt Lake City. The aim of this conference is to bring technologists and genealogists together. Many of the sessions are streamed around the world.
    2. National Genealogical Society (NGS) Usually held in May and often in the Eastern part of the US.
    3. Federation of Genealogical Societies (FGS). Usually held in the late summer. Although it is technically aimed at helping strengthen local and regional societies, there is a rich array of programing aimed at individual researchers.
    4. Genealogy Jamboree of the Southern California Genealogy Society. Usually held about the 2nd week of June in Burbank. The last five years there has been a separate DNA Day at the same location the day before Jamboree begins. 

    Home schooling options:

    While these large conferences provide a rich array of opportunities in one location as a sort of shock treatment of simultaneous sessions and opportunities to consult with vendors, these sponsoring organizations also provide a rich array of other learning opportunities throughout the year. Some examples include:
    1. FamilySearch offers a wide array of opportunities each month.
    2. The SCGS Webinar Series that was introduced in a previous blog post offers two webinars each month plus some streaming from Jamboree in June.  

    Personal learning objectives

    I stayed up all night thinking about and writing this post and it is dawning on me that if I try to make it too comprehensive, nothing will ever get published. Tell me what your favorite learning opportunities are and I'll try to include them in my next post on this subject. 

    Please share what you would like to learn in 2017.