Joint calling of the ExAC publications

Joint calling of the ExAC publications

We report this week in Nature and Nature Genetics the first publications from the Exome Aggregation Consortium (ExAC), a project that has generated the largest catalogue to date of variation in the protein-coding regions of the genome (known collectively as the exome), aggregating sequence data from over 60,000 individuals from across 21 research studies. Most importantly, they have provided a publicly accessible database (http://www.exac.broadinstitute.org), which has already become a critical resource for research and clinical studies. While an estimated over 1 million individuals have been exome or whole genome sequenced, only a small fraction of this data has been made publicly available, as there are many challenges to sharing and providing open access to these datasets. We applaud the authors for recognizing this need and meeting these challenges.  Read more

Marking the launch of this blog and our journal

We launched Free Association in November 2005, as one of the first two Nature Publishing Group journal blogs. Our blog was launched as a pioneering effort by our then Senior Editor Alan Packer (who has since moved to a position as Associate Director for Research at the Simons Foundation ), as a new way for the editors of Nature Genetics to engage our community.  We did so with excitement about interacting and discussing papers and community issues on a more informal level than is possible in our print publication.  At the same time, I recall that we (the Nature Genetics editors at the time) shared some concerns about what we would be able to discuss, given the confidential nature of the peer review process.  Read more