Nature Genetics | Free Association

Setting standards for medical genome sequencing

As described in the editorial “Towards a medical grade human genome sequence”, we are pleased to collaborating with the $10 Million Archon Genomics X PRIZE (AGXP) to develop a set of standards and procedures to help with judging the prize contest. Your comments are needed but should not be limited to this aim alone because the contest is just the beginning of this standard-setting project. For examples, it is likely that the very kinds of genome variation browser and related software that are needed to evaluate the sequencing effort are the spin-off product the community really needs to make medical genomics a reality.

The draft validation protocol is a collective assembly of techniques designed to test the quality and accuracy of 100 whole human genome sequences resulting from the AGXP competition. The purpose of this article is to enlist constructive criticism from the genomic and genetic community on the outlined approaches.

Alexander Zaranek et al. have in response posted an intriguing set of suggestions to simplify, improve and reduce costs of validating the AGXP. We encourage readers to examine that article and help us decide whether the suggestions should be substituted or incorporated into the Protocol.

Thomas Perls and Nir Barzilai have now made the exciting suggestion that the AGXP use the genomes of 100 survivors of age-related diseases (over 105 years old) as the sample set for the contest. They list a number of reasons why such a set of genomes would add considerable scientific knowledge as opposed to 100 random genomes.

Comments can be submitted via Nature Precedings, or can be sent directly to the corresponding author of the validation protocol: Larry Kedes kedes[at] Alternatively, you may prefer to email this Nature Genetics blog at freeassociation[at] In the latter case, please let the moderator (Myles Axton) know how you wish your comments to be posted here. They can be either attributed or anonymous, provided you let us know your email address and real name.


There are currently no comments.