Using Large Scale Genomic Databases to Improve Disease Variant Interpretation

  • Daniel MacArthur | Broad Institute of MIT and Harvard; Massachusetts General Hospital; Harvard Medical School

Rapid advances in sequencing technology have led to the generation of genome-scale DNA sequencing data for more than 2 million individuals worldwide. These data represent incredibly powerful information about the distribution and impact of genetic variation, but major challenges remain to aggregating and harmonizing them. In this presentation, I will describe the development of the Exome Aggregation Consortium (ExAC) and Genome Aggregation Database (gnomAD) databases, which combined represent exome and genome sequencing data for over 135,000 individuals. I will discuss approaches to analyzing genome data at massive scale and the applications of these data to understanding human variation and gene function.

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