TY - JOUR T1 - The ExAC Browser: Displaying reference data information from over 60,000 exomes JF - bioRxiv DO - 10.1101/070581 SP - 070581 AU - Konrad J. Karczewski AU - Ben Weisburd AU - Brett Thomas AU - Douglas M. Ruderfer AU - David Kavanagh AU - Tymor Hamamsy AU - Monkol Lek AU - Kaitlin E. Samocha AU - Beryl B. Cummings AU - Daniel Birnbaum AU - The Exome Aggregation Consortium AU - Mark J. Daly AU - Daniel G. MacArthur Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/08/19/070581.abstract N2 - Worldwide, hundreds of thousands of humans have had their genomes or exomes sequenced, and access to the resulting data sets can provide valuable information for variant interpretation and understanding gene function. Here, we present a lightweight, flexible browser framework to display large population datasets of genetic variation. We demonstrate its use for exome sequence data from 60,706 individuals in the Exome Aggregation Consortium (ExAC). The ExAC browser provides gene- and transcript-centric displays of variation, a critical view for clinical applications. Additionally, we provide a variant display, which includes population frequency and functional annotation data as well as short read support for the called variant. This browser is open-source, freely available, and has already been used extensively by clinical laboratories worldwide. ER -