Accelerating Time to Discovery with Whole Exome Sequencing on UK Biobank’s Research Analysis Platform

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UK Biobank, a large-scale biomedical database and research resource containing in-depth genetic and health information from half a million UK participants, is holding this webinar with DNAnexus, the Regeneron Genetics Center (RGC) and NVIDIA to discuss the recent exome sequencing project, the commitment to practical equitable data access, and the DNAnexus developed UKB Research Analysis Platform.

UK Biobank undergoes ongoing data collection, coupled with linkage to electronic health records, that has generated over 800,000 data files and more than 10 million variants. RGC rapidly sequenced and analyzed 450,000 UK Biobank exomes, using a bioinformatics protocol comprising entirely open-source tools including BWA-MEM, GLnexus, and Google’ DeepVariant. The scale and speed of this analysis (20,000 samples/week) was enabled by GPU-accelerated secondary analysis tool NVIDIA Clara Parabricks running Google’s DeepVariant, and by the DNAnexus platform. As part of the data release, UK Biobank, NVIDIA, RGC, and DNAnexus are collaborating to provide the entirety of this workflow to all users of the UK Biobank Research Analysis Platform.

In this webinar, UK Biobank, RGC, NVIDIA & DNAnexus will review the exact analysis pipeline used to quickly generate the 450,000 reference data set, and are offering UK Biobank researchers a free 6 month trial license to NVIDIA Clara Parabricks to help them replicate this accelerated workflow. The webinar goal is both to provide an overview of this analysis pipeline and to enable all UK Biobank researchers the opportunity to fully harmonize their own data, at any scale, with the UK Biobank exome data.

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