Exome Dataset Expands to Whole Genome

Members of the Exome Aggregation Consortium launch the Genome Aggregation Database.

By | October 19, 2016

With information from 126,216 human exomes and 15,136 whole human genomes, the Genome Aggregation Database (gnomAD), hosted by the Broad Institute of MIT and Harvard, has launched in beta. Members of the Exome Aggregation Consortium (ExAC), the leaders of gnomAD, have accumulated nearly “40 terabytes of raw variant data that need to be parsed for analysis,” co-principal investigator Daniel MacArthur of the Broad announced today (October 19) at the American Society for Human Genetics (ASHG) annual meeting, held in Vancouver this week. 
 
Altogether, the gnomAD team is now looking at 17.7 million variants identified from exome data and 254.2 million variants pulled from whole-genome data. 
 
Already, the expansion from ExAC to gnomAD has demonstrated “the benefits of looking at whole-genome data in addition to exome-sequencing data,” MacArthur said, inviting meeting attendees to access the publicly available database. 
 
The gnomAD dataset currently contains single-nucleotide polymorphism (SNP) and insertion-deletion (indel) data. The gnomAD team, which includes more than 100 PIs, will next be analyzing copy-number variants (CNVs), among other things, MacArthur said.

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