RT Journal Article
SR Electronic
T1 The ExAC Browser: Displaying reference data information from over 60,000 exomes
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 070581
DO 10.1101/070581
A1 Konrad J. Karczewski
A1 Ben Weisburd
A1 Brett Thomas
A1 Douglas M. Ruderfer
A1 David Kavanagh
A1 Tymor Hamamsy
A1 Monkol Lek
A1 Kaitlin E. Samocha
A1 Beryl B. Cummings
A1 Daniel Birnbaum
A1 The Exome Aggregation Consortium
A1 Mark J. Daly
A1 Daniel G. MacArthur
YR 2016
UL http://biorxiv.org/content/early/2016/08/19/070581.abstract
AB 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.