Archon Genomics X Prize in brief

As I understand it, the contest is technology-driven to get 100 genomes in 30 days. The benefits to us in the genetics community is 100 excellent genomes sequenced many times over, from 105 year-olds who act as supercontrols for age-related diseases. We also get a software contest so we get better browsers. I think if the 100 centenarians can be taken from 10 different projects, then we can leverage the projects via the shared controls and get more data sharing and trust  … Read more

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.  Read more

Update on post-GWAS functional standards paper

It is interesting to see how new views are building up as more authors join the initiative to develop the draft standards paper. It is also fascinating to see them experiment with new tools and services for a diverse author group. There is now an active discussion page for authors and referees of the standards paper at Wikigenes. A collection of relevant supporting papers has been assembled on Mendeley. It would be great if the corresponding authors have time to submit a revised draft to Nature Precedings before the authoring deadline so that we can see how the reference copy has evolved.  Read more

Wikigenes joins our experiment in collaborative authoring of standards

Now there is another way to make your contribution to the standards document “Principles for the post-GWAS functional characterisation of risk loci” described in the previous post, automatically becoming a co-author in the process. Wikigenes creator Robert Hoffmann has set up a splash page, introducing the paper and a link to the editable version at Wikigenes.  Read more

Community consensus criteria

A group of researchers funded by the NIH Post-GWAS Initiative have produced a draft standards document for the cancer genomics field entitled “Principles for the post-GWAS functional characterisation of risk loci” that can be found in preprint form at Nature Precedings archive. This document is intended for publication as a Perspective in Nature Genetics. Because field-specific criteria supported by broad consensus are more likely to be useful, we have decided to invite all stakeholders to become co-authors or peer referees of this document in place of editorially supervised peer review. This is very much an experiment, some editorial judgment may be needed, or formal expert review may or may not be needed in this case.  Read more