An interactive genome browser of association results from the UK10K cohorts project

Abstract

High-throughput sequencing technologies survey genetic variation at genome scale and are increasingly used to study the contribution of rare and low-frequency genetic variants to human traits. As part of the Cohorts arm of the UK10K project, genetic variants called from low-read depth (average 7×) whole genome sequencing of 3621 cohort individuals were analysed for statistical associations with 64 different phenotypic traits of biomedical importance. Here, we describe a novel genome browser based on the Biodalliance platform developed to provide interactive access to the association results of the project.

Availability and implementation: The browser is available at http://www.uk10k.org/dalliance.html. Source code for the Biodalliance platform is available under a BSD license from http://github.com/dasmoth/dalliance, and for the LD-display plugin and backend from http://github.com/dasmoth/ldserv.

Fig. 1.

Example screenshot of the UK10K Genome Browser. The panel shows a 30-kb region of the human genome where UK10K SNPs associate with HDL Cholesterol with high P-values around the CETP gene. Colouring identifies groups of independent SNPs