Family Tree DNA Adds New RSRS Reporting for Mitochondrial DNA

STAYING AHEAD OF THE GAME

Family Tree DNA is staying on top of the latest advancements in genetic genealogy, adding a new way of reporting our mitochondrial DNA.

PAPER

In April of this year a paper by Doron Behar (et al) was published proposing a new method of reporting mtDNA. This method uses mutations referenced to a Reconstructed Sapiens Reference Sequence (RSRS) instead of the traditional revised Cambridge Reference Sequence (rCRS). In the author's own words:

In this study, we propose a ?Copernican? reassessment of the human mtDNA phylogeny by switching to a Reconstructed Sapiens Reference Sequence (RSRS) as the phylogenetically valid reference point. We aim to trigger the radical but necessary change in the way mtDNA mutations are reported relative to their ancestral/derived status, thus establishing an intellectual cohesiveness with the current consensus of shared common ancestry of all contemporary human mitochondrial genomes.

?NEW RESULTS

In line with this proposal, FTDNA has added the new RSRS values in a tab next to the rCRS values that we are used to seeing.? Here is what it looks like in my account:

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IMPROVEMENT OVER rCRS

This new method is an improvement over the old method (based on the 1981 sequence which is now being classified as belonging to the haplogroup H2a2a1), in part, because it uses the root of the tree as the base from which to count mutations rather than the differences from the random sample that has been used in the past. More from the authors:

Mutational events along the human mitochondrial DNA (mtDNA) phylogeny are traditionally identified relative to the revised Cambridge Reference Sequence (rCRS), a contemporary European sequence published in 1981. This historical choice is a continuous source of inconsistencies, misinterpretations and errors in medical, forensic and population genetic studies. Here, after having refined the human mtDNA phylogeny to an unprecedented level by adding information from 8,216 modern mitogenomes, we propose switching the reference to a Reconstructed Sapiens Reference Sequence (RSRS), which was identified by considering all available mitogenomes from Homo neanderthalensis.?

NEW SITE

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With this change, FTDNA has also launched a new website:
mtDNACommunity.org is brought to you as a free public service, aiming to facilitate the further understanding of the human mtDNA phylogeny.?
Its stated goal is:
This website is committed to the support of the "Copernican" reassessment of the human mtDNA phylogeny and to the establishment of computational tools meant to facilitate phylogenetic analysis and comparison of complete mtDNA sequences.?

It appears that Dr. Behar will be actively involved in the site:

TOOLS TO EASE THE TRANSITION

There are two new tools to help us ease into the transition:
To facilitate data transition from an rCRS to an RSRS based nomenclature we release the tool "FASTmtDNA". Additionally, the tool "mtDNAble" automatically labels haplogroups, performs a phylogeny based quality check and identifies private substitutions. These noted features are fully supported in this website or as standalone versions, which can be freely downloaded from the website including their manual and example files.

MORE DETAILED HAPLOGROUP

On FTDNA's website, I am still listed as haplogroup U5b1, but on mtDNA Community, my full U5b1b2 Haplogroup is reported. That is the same haplogroup reported by 23andMe for me and my matrilineal relatives, so it is nice to see it confirmed here.

?OUR CITIZEN SCIENTISTS

It is exciting to see that the contributions of genetic genealogists and "citizen scientists" Rebekah Canada and William R. Hurst were acknowledged in this paper and, as we in the genetic genealogy community know, this is well deserved. However, Ian Logan's earlier paper with similar ideas published in 2007 by the Journal of Genetic Genealogy was also deserving of acknowledgement and, perhaps, mistakenly, overlooked.

?MATCHES

Matches can be accessed under the "Community" heading on the new site. I uploaded my results, but I don't have any matches there, so hurry up and add yours so mine aren't so lonely!

Source: http://www.yourgeneticgenealogist.com/2012/07/family-tree-dna-adds-new-rsrs-reporting.html

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