Exome – ExAC project pins down rare gene variants

Catalogue of genetic information from some 60,000 people reveals unexpected surprises — and highlights the need to make genomic data publicly accessible to aid studies of rare diseases.

More than one million people have now had their genome sequenced, or its protein-coding regions (the exome). The hope is that this information can be shared and linked to phenotype — specifically, disease — and improve medical care. An obstacle is that only a small fraction of these data are publicly available.

In an important step, we report this week the first publication from the Exome Aggregation Consortium (ExAC), which has generated the largest catalogue so far of variation in human protein-coding regions. It aggregates sequence data from some 60,000 people. Most importantly, it puts the information in a publicly accessible database that is already a crucial resource (http://exac.broadinstitute.org).

Source: ExAC project pins down rare gene variants : Nature News & Comment