Nature Genetics | Free Association

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 (, 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. 


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