We recently announced the new study into at-home genetic testing being conducted at the University of British Columbia. The initial phase focused on those just now taking their first tests so that brief surveys could be completed both before and after receiving test results.
Today the scope of the UBC study has opened to those who have taken an at-home DNA test in the past. Participation by new test-takers is still encouraged, but all who have taken any popular direct-to-consumer DNA test are now welcome. The academic study is university-sponsored, and is free and completely confidential. Anita DeLongis, the study's director describes the effort:
There is a great interest today in direct-to-consumer genetic testing. We have heard from many people about results that surprised and delighted them, as well as from others whose DNA revealed family secrets that caused distress. Our objective is to understand the goals people have in seeking out genetic testing, and the impact receiving results has on individuals and their families. We want to engage with people as they move through the process of deciding to submit their DNA, through to how they feel when they get their results, to the impact when they share their results with friends and family. Participating in our study is completely confidential, and results will only be shared with the scientific community and the public in aggregate, only in groupings of participants. We never share findings about a particular individual.
—Dr. Anita DeLongis
You can learn more, and begin your participation, at this link to the study at the UBC website.
In conjunction with its annual MyHeritage Live event in Amsterdam, the growing genetic genealogy company based in Israel announced today that is has acquired River Road Bio, the entity that owns and operates both Promethease and SNPedia. This is the tenth business acquisition by MyHeritage.
SNPedia is a community-curated database and Wiki knowledgebase containing information for over 110,400 variants, connecting them with over 30,000 scientific publications. Promethease uses these data to compare consumer-uploaded DNA test results in order to find possibly relevant correlations to the users' unique genomes.
MyHeritage says that it intends to keep Promethease independent from its own branded DNA health/clinical products. Promethease previously cost $12 to upload DNA test results, but MyHeritage announced that it will be free through at least December 31. Of note, however, is that in November 2019 DNA test results uploaded and stored at Promethease will automatically be uploaded to the MyHeritage database. European Union citizens and residents will be afforded an opt-out of the automatic data transfer to MyHeritage; others not wishing their results automatically uploaded will need to manually delete them before November.
SNPedia is a free resource for non-commercial use and operates under a Creative Commons license. MyHeritage will now have sole ability to make use of SNPedia commercially.
Said Dr. Yaniv Erlich, Chief Science Officer for MyHeritage, "The acquisition of SNPedia and Promethease expands MyHeritage's intellectual property in medical genetics. Going forward, SNPedia will empower us to broaden the scope of health reports provided by the MyHeritage DNA Health+Ancestry test and propel it to become a global market leader in consumer DNA testing. We are happy to keep SNPedia as a free resource for the academic community and for consumers."
This follows the 14 August announcement by Ancestry.com CEO Margo Georgiadis that the largest of the direct-to-consumer DNA testing companies is expanding into individualized medicine and "is building out a full health team, with open roles in marketing, engineering, communications, and senior management."
See also: Business Wire, 7 September 2019, 4:20 a.m. EDT
Sometime within the past two weeks (and very probably as of 5 February when Family Tree DNA (FTDNA) began accepting uploads from the 23andMe v5 test), FTDNA made a change in the formatting of the file users receive when they download their raw autosomal DNA (Family Finder) test results. This has been reported to cause issues uploading the data to other testing companies like MyHeritage, but seems not to be a concern at GEDmatch.
The new file format is sorted by reference sequence ID (RSID) number. These numbers are unique across all chromosomes and reference a specific allele. Previously the FTDNA files—as are those from AncestryDNA and MyHeritage—were sorted by chromosome number first, then by physical position on the human genome map. One advantage of the new format is that allele values at each location are now split into two separate data fields, or columns, where previously they were a single data element (e.g., AA, AG, CT, GT).
The material data seem not to have changed, although some comparisons of raw data downloaded 30 days ago and this week are indicating a minimal number of SNP comparison difference, on the order of 15,000 RSIDs. It seems unlikely FTDNA will expend any resources to modify the format to be backwardly-compatible with MyHeritage. If you have uploads of new FTDNA data pending and incomplete elsewhere, the only course of action now seems to be to wait until the receiving parties can adapt to the new FTDNA format.
Family Tree DNA (FTDNA) announced today on the Family TreeDNA Forums that it can now accept transfer of autosomal DNA test results from the 23andMe v5 test and the AncestryDNA v2.2. Note that the latter is not an official version designation by AncestryDNA and it is not completely clear at this time if the v2.2 test is still being run on an Illumina OmniExpress+ chip. SNPedia refers to the most recent iterations of the Ancestry tests as versions "2c" and "2d," appearing April 2018 and December 2018 respectively. We believe it is this December 2018 version that FTDNA can now accommodate.
The 23andMe v5 test debuted August 2017 and was the first to use the then-new Illumina GSA (Global Screening Array) chip. With redefined SNP targets, the problem for genealogists with the new chip was that it tested only about 20% of the same SNPs or reference sequence IDs (RSIDs) as does Illumina's OmniExpress chip. Attempting matching between results from the two chips is challenging and will always carry a level of uncertainty simply because the sets of data compared are largely disparate.
With it's completion of data migration to the Genesis version of its database, GEDmatch has shown that they will, at least at this time, attempt no genotype modeling or imputation in an effort to compare OmniExpress and GSA results. They have made alterations in default SNP density and contiguity thresholds, and do indicate in their matching tools the amount of overlap in number of SNPs compared so that users may understand when a comparison might be lacking adequate data, but they will not attempt to artificially augment the comparison by imputing allele values that were not tested. It remains to be seen what approach FTDNA is taking to accommodate GSA data.
Update 13 February 2019: FTDNA is reporting to volunteer Group Administrators that 23andMe v5 data files are not uploading as expected at this time, and that the problem is being analyzed for correction.
Our latest blog post, "Genetic Genealogy and the Dunning-Kruger Effect," received comments on Twitter and Facebook from noted genealogists like Debbie Cruwys Kennett, Blaine Bettinger, Roberta Estes, Leah Larkin, Louis Kessler, Yvette Hoitink, Elizabeth Shown Mills, and many others, resulting in lively Facebook discussions and our record single-day number of hits to the Counting Chromosomes blog.
Both Facebook Groups involved are Closed and require admission, and both are well worth the subscription and participation:
As to shattering our single-day record, on 11 September 2018 the blog post had 2,566 distinct reads. The previous record was 1,102. Being controversial was not the intent, but clearly the subject did get folks talking.
I told Elizabeth Shown Mills that I needed to print and frame one of her comments. I'm not certain there is a serious genealogist alive who doesn't know of, and owe a debt of gratitude to, Elizabeth. She's been recognized as "the genealogist who has had the greatest impact on American genealogy in the post-Roots era," she has a curriculum vitae longer than I am tall, and she's the author of essential reference books, professional guides, and historical fiction. She wrote:
I started out highlighting all the quotable passages in this blog post. I gave up when I noticed that most of the text was being highlighted.
Announced today is a collaboration between famed filmmaker Ken Burns and Pulitzer Prize-winning author and physician Siddhartha Mukherjee that will bring a new, three-hour documentary based on Mukherjee's best-selling 2016 book, The Gene: An Intimate History to PBS in the spring of 2020.
Commenting on the production, Mukherjee, assistant professor of medicine at Columbia University and staff cancer physician at Columbia University Medical Center, wrote: "Genes influence our forms and our fates, our behaviors and choices, and the forms, fates, behaviors and choices of every living being. We are living in an era when humans are beginning to read and write this 'code of codes'—our own code—with astonishing and unprecedented facility. Drawing elements from history, science, anthropology, ethics and medicine, this Ken Burns production will demonstrate how our understanding of genetics has evolved over the decades, and how deeply our future will be impacted by it."
The three-part series is now in active production. Actual air dates in 2020 have not yet been announced.
See also: PBS press release 30 July 2018, "PBS Announces Ken Burns Presents The Gene: An Intimate History, New Collaboration with Siddhartha Mukherjee, M.D."
American Ancestors, a service by the New England Historic Genealogical Society, is offering free access to all its online databases—including the recently released Mayflower Families Fifth Generation Descendants, 1700-1880—from Tuesday, July 10, through Tuesday, July 17.
You do need to be registered as a Guest Member in order to search the databases, but there is no charge and no credit card required to access its more than 1.4 billion names on file. Useful to all searching for American records, it is particularly valuable to those with a New England heritage. And it offers a free trial for those may wish to join American Ancestors.
About the NEHGS: "New England Historic Genealogical Society (NEHGS) is America’s founding genealogical organization and the most respected name in family history. Established in 1845, NEHGS is the nation’s leading comprehensive resource for family history research and the largest Society
We wrote recently about the sea of criticism mounting against the Orwellian proposal by the EU for a "Directive on Copyright in the Digital Single Market" (see "Will the Proposed EU Copyright Directive Irrevocably Damage the Internet?" and "Controversial Copyright Proposal Passes First Step in European Union Parliament"). Yesterday, July 5, the 627 Members of the European Parliament (MEPs) present (of 751 total) rejected the current language of the proposal voting 318 against, 278 in favor, and 31 abstaining.
While technically a rejection, in reality the vote is more of a displacement: it didn't scuttle the proposal entirely, but now allows all 751 MEPs to have input about possibly recasting and rewording the directive. So the matter isn't put to rest yet; the revised proposal will see another vote in September. In a plenary vote 20 June 2018, the Legal Affairs Committee (JURI) of the European Union Parliament voted for the copyright directive exactly as presented. This led to the full parliamentary vote yesterday
MyHeritage announced a data security breach to their service late yesterday, June 4, on the MyHeritage Blog.
"We determined that the file was legitimate and included the email addresses and hashed passwords of 92,283,889 users who had signed up to MyHeritage up to and including Oct 26, 2017 which is the date of the breach."
It is important to note that there is no reason to believe that any password information has been compromised. The passwords—as with almost all websites, including ours—are stored in what's called a "hash" format: essentially, a string of gibberish that can't be reconstituted to a password without a separate, binary "key" file. MyHeritage indicates that no data but email addresses seem to have been compromised:
"We have no reason to believe that any other MyHeritage systems were compromised. As an example, credit card information is not stored on MyHeritage to begin with,