What should you do with your full sequence mtDNA results?

+12 votes

Here are some recommendations regarding full sequence mtDNA results.  Please let me know if any links don't work, etc.  Sincerely, Peter. :

The full sequence mtDNA test (mtFullSequence) may reveal medically significant information for you and all your mtDNA cousins.[1]  While it is almost always safe to share HVR1 and HVR2 results of the mtDNAPlus test (i.e. by uploading to MitoSearch), you should not publicly share the results of a full sequence mtDNA test until a qualified consultant has confirmed your full sequence results do not reveal any health related issues.[2] 

Those who test their full sequence mtDNA should submit their anonymous data to GenBank so that their results may be used in further scientific research such as the origin and distribution of mtDNA haplogroups.[3] 

I also recommend you upload your RSRS values to http://www.mtdnacommunity.org/ see: http://www.mtdnacommunity.org/about.aspx


[1] About one in 200 people have a mtDNA mutation that potentially causes disease in the offspring of female carriers. "Pathogenic Mitochondrial DNA Mutations Are Common in the General Population."  The American Journal of Human Genetics, Volume 83 , Issue 2 , Pages 254 - 260 H . Elliott , D . Samuels , J . Eden , C . Relton , P . Chinnery )

[2] The recommended consultant is Ann Turner, M.D. DNACousins@aol.com who charges $50 for a full sequence custom report like that at http://freepages.genealogy.rootsweb.ancestry.com/~ncscotts/Scott%20DNA/Ron%20Scott%20-%20U4b.pdf

[3] Instructions for submitting full sequence mtDNA results to GenBank are at http://www.ianlogan.co.uk/submission.htm


in The Tree House by Peter Roberts G2G6 Pilot (605k points)
retagged by Ellen Smith
Does this site still work? I have never been able to create an account.
The site appears to be mostly operational, but registration is failing.  I emailed the posted website maintainer (Doron M Behar of FTDNA).  Perhaps after the holidays are over, someone from FTDNA will have time to fix the issue.

Thanks Peter, for posting this.

1 Answer

+7 votes
Thank you Peter. This is great. I just submitted my mtDNA Full Sequence  to GenBank. I did try the mtDNA Community but when I click the Transfer button with my FTDNA Kit Number and Password it doesn't work I get error message that "The request failed with an empty response".

by James Stratman G2G6 Mach 8 (88.7k points)

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