Tag Archives: annotating gnomAD

Merged gnomAD Genomes and Exomes Annotation Source

         July 15, 2021
CNV Annotations

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects (1). We have covered this annotation in-depth in other blog posts, but this resource contains over 125,000 exome sequences and around 16,000 whole genome… Read more »

Annotating with gnomAD: Frequencies from 123,136 Exomes and 15,496 Genomes

         May 16, 2017
annotating gnomAd

Annotating with gnomAD: Frequencies from 123,136 Exomes and 15,496 Genomes When the Broad Institute team lead by Dan MacArthur announced at ASHG 2016 that the successor to the popular ExAC project (frequencies of 61,486 exomes) was live at http://gnomad.broadinstitute.org/, I thought their servers would have a melt-down as everyone immediately jumped on and started looking up their favorite genes and… Read more »