Ancestry.com DNA haplogroup designations


We’ve received a few comments on our postings with respect to our haplogroup designations, so I thought it would be a good idea to address this subject in greater detail.   What is a haplogroup?  How are haplogroups determined?  Do they ever change; and if so, why?   

What is a haplogroup?
As our ancient ancestors migrated from Africa tens of thousands of years ago, spread throughout the world and adapted to new environments, their DNA diversified into distinct groups and subgroups.  These ancient ancestral groupings are known as haplogroups.  Ancestry.com DNA predicts which haplogroup your paternal- or maternal-line ancestors belonged to and displays the associated migration routes these ancestors took out of Africa into other parts of the world.   The haplogroup nomenclature consists of letters and numbers, so an R1b1c is a more refined subclade of the macrogroup, R.  Y- chromosome and mitochondrial DNA haplogroups have distinct haplogroup designations. 

How are haplogroups determined?
Because a haplogroup consists of similar haplotypes, we are able to predict haplogroups.  Ancestry.com DNA utilized 3 predictors each with different methodologies to triangulate the haplogroup prediction.  The accuracy of these predictors together is 99% per our validation data; however, there will always be the occasional wrong prediction.  A SNP test will confirm a haplogroup.  While our predictors do contain SNP tested data, occasionally we do encounter a discrepancy between the predictors where the superclades are completely different.

Will my haplogroup change?
Because of continuing developments in the field, the structure of the phylogenetic tree (a visual representation of the haplogroup relationships) will change and has changed.  Since a haplogroup is simply a group of similar haplotypes that share a common ancestor with a SNP mutation, your haplogroup designation is subject to research advances.  Often the nomenclature will change much faster than the descriptions of the refined haplogroups.  Earlier this year, we put into production an update to our haplogroup predictors.  Sometimes, haplogroup populations may share similar Y haplotypes (this happens because of mixing populations), in this event (or any ambiguous prediction) the laboratory will conduct a SNP confirmatory test.

A note about this last scenario:  Ancestry.com DNA will display the most detailed haplogroup designation we are able to determine; however, in some cases, we may not have supporting descriptions for the refined designation.  In this case, the description will revert to that of the most detailed subclade.

Each year the International Society of Genetic Genealogy (ISOGG) meets to discuss new findings in haplogroup research. They then iterate on the haplogroup tree, making changes to the nomenclature to reflect the findings. Here is a link to the most recent changes.  These changes are reflected in the most recent update to Ancestry.com DNA’s haplogroup predictor.
 

 

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March 15th, 2009
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Comment Number:
1
Written by:
Darrell Wesley
Posted on:
March 16, 2009 at 9:23 am

Does your DNA testing show native american involvement?

Comment Number:
2
Written by:
Robert A. Good
Posted on:
March 17, 2009 at 11:23 am

Ancestry’s lack of accuracy about predicting haplogroups represents a serious problem for our Good/Guth/Gut surname study. We are all Y-haplogroup L (more specifically, L2a). This has long been confirmed by specific SNP testing. Two of our study participants have been tested by Ancestry’s lab and predicted as O2a and E3b. Two others, including me, have transferred data from another lab. My own data was initially classified by your lab as I. Our participants use the Haplogroup designation as a first cut, to decide whether they belong to our lineage or some other. To our participants, your haplogroup assignments are at best useless and at worst confusing and misleading. They look as though they are randomly assigned. This can’t be all that difficult to resolve (other labs have done it). Can you provide me with a contact who will inform me when this has been sorted out? In the meantime, I will be advising our participants to use other testing resources.

Comment Number:
3
Written by:
John McCartney
Posted on:
March 17, 2009 at 4:09 pm

Hi Wendy,
I’ve noticed what seems to be a glitch on your find a match page regarding results that folks have entered in from other labs.
You don’t appear to have a conversion macro. Thus, when someone from, say, FTDNA plugs in their results, there is apparently no proper conversion on the find a match page.
For example, I belong to the E3b group at Haplozone, which converts results from each lab. There I found a close match with a similar surname — a genetic distance of 3. On your site we are MUCH farther apart. One reason is that his FTDNA results haven’t been properly converted to the Ancestry standard, which is quite different.
Also at DYS 464c I have a result of 15.3. FTDNA does not report fractional results, so my 15.3 is equal to his 16 on this value.
SMGF seems to have a cool macro on their search page that has you supply your results as your lab reported them, then has you select the lab. Searches are then done with the converted values.
I’m not a programmer but it seems like this should be fairly easy to do. I could do it on a spreadsheet. It should also be easy to program that Ancestry values of 15.1, 15.2 or 15.3 on DYS 464c or others are equal to an FTDNA value of 16. Any chance of getting this done?
It would make your find a match page much more valuable.
It would also be cool if instead of (Manually Entered), you would give their lab standard. Then we could do the proper conversion, if necessary.
Cheers,
John

Comment Number:
4
Written by:
Wendy Jessen, Ancestry.com
Posted on:
March 17, 2009 at 8:18 pm

Darrell, Neither your haplogroup prediction nor your DNA test result will reveal the percentage of a given ancestral ethnicity nor the precise tribe from which you may descend. Please refer to our FAQs for additional information.

Comment Number:
5
Written by:
Wendy Jessen, Ancestry.com
Posted on:
March 18, 2009 at 10:16 am

Robert, thank you for your interest in Ancestry.com DNA’s haplogroup designations. Our laboratory provides haplogroup predictions using statistical approaches that produce consistent results with SNP-tested samples approximately 99% of the time. This 99% accuracy was the result of a rigorous validation using SNP-tested samples and the corresponding haplotypes. This is not to say it is 100% accurate, it is a statistical calculation and no statistical calculations are guaranteed to hit that level. There are valid reasons why your Good participant’s sample did not predict an L and it has to do with overlap in alleles and their population means for each marker. The predictor has gone through a series of validations and our confidence is justified with empirical data but again, this will happen. The only way to confirm a haplogroup is to become SNP-tested.

In this case there are obviously different haplogroups from different geographic regions. Sometimes the haplotype modals at each tested marker can overlap thus causing prediction limitations. In this case, Haplogroup L is distributed throughout Southeast Asia and seems to have originated from Southwestern Asia whereas O likely originated in Southeastern Asia but expanded into India. Specifically, O2a is very common in southeastern Asia and Indonesia. These two populations are, historically neighbors. This would explain why the modal haplotypes are similar and that predictors have a hard time differentiating between the two.

For specific questions about individual results you refer to in your comment, however, it is best to contact our client services team at info@dna.ancestry.com so we can respond in detail about each participant and can ensure their privacy. Should you have any further comments about the blog postings directly, please feel free to continue commenting.

Comment Number:
6
Written by:
News from Ancestry.com
Posted on:
March 18, 2009 at 5:56 pm

[...] Ancestry.com DNA haplogroup designations, posted by Wendy Jessen, marketing manager for Ancestry.com DNA [...]

Comment Number:
7
Written by:
Jolene Noteboom
Posted on:
March 19, 2009 at 10:59 am

Is there a single location that all y-dna results can be found? Where they’re combined from all y-dna testing sites?

This is what my family needs, as we don’t have a surname, and need to do searches by Haplogroup. My mt-dna and my Brother’s y-dna were done at Ancestry.

Comment Number:
8
Written by:
Wendy Jessen, Ancestry.com
Posted on:
March 20, 2009 at 10:27 pm

Hi Jolene, there are a few publicly accessable databases where users can input their DNA results and search for matches, but there is not one single mega source. Ancestry.com DNA will send you an email when a new match is observed within our database. Some match instantly, others as the database grows.

Comment Number:
9
Written by:
Wendy Jessen, Ancestry.com
Posted on:
March 20, 2009 at 10:46 pm

John, conversion is done upon entry. Matching does not take the lab into consideration. Within our system, there is a difference between 15.3 and 15 and 16.

Comment Number:
10
Written by:
Carolyn Jane Jones
Posted on:
March 23, 2009 at 2:05 am

It has been called to my attention by our DNA group members that when they click on the Compare DNA link, they get a message stating, “Sorry, we can’t find the group you’re looking for. View Results” I hope that you are fixing this as this is an important link for DNA group members.

Comment Number:
11
Written by:
Wendy Jessen, Ancestry.com
Posted on:
March 23, 2009 at 10:09 am

Carolyn, I just did a compare of your group, Descendants of Hugh Jones, Orange Co, Virginia and it is working correctly. If you have specific questions, please contact dna@ancestry.com for customized assistance.

Comment Number:
12
Written by:
Rodney Wilkerson
Posted on:
March 25, 2009 at 6:15 pm

Please explain how my DNA test proves if I am from the Cherokee tribe.

Comment Number:
13
Written by:
Wendy Jessen, Ancestry.com
Posted on:
March 26, 2009 at 9:33 pm

From our FAQ’s…Will DNA Ancestry’s testing tell me my ethnic tribe or what percentage of Native American ancestry I have?

DNA Ancestry provides a complimentary prediction of one’s haplogroup with your test results. As our ancient ancestors migrated from Africa tens of thousands of years ago, spread through out the world and adapted to new environments, their DNA diversified into distinct groups and subgroups. These ancient ancestral groupings are known as haplogroups. DNA Ancestry predicts which haplogroup your paternal- or maternal-line ancestors belonged to and presents you with a map showing the migration routes these ancestors took out of Africa into other parts of the world.

Neither your haplogroup prediction nor your DNA test result will reveal the percentage of a given ancestral ethnicity nor the precise tribe from which you may descend.

Comment Number:
14
Written by:
John Tremblay
Posted on:
March 31, 2009 at 3:50 am

What are the specific differences between your DNA Testing results as compared to a Family Name trace? Both can give you generalized migration patterns.

Comment Number:
15
Written by:
Wendy Jessen, Ancestry.com
Posted on:
April 5, 2009 at 11:50 pm

John, a surname trace will follow the passing of the name throughout the generations. DNA testing can reveal instances where there may be a non paternal event, for example an adoption, in which case the specific family line DNA signature would be helpful in identifying appropriate possibilities for biological connections.