All posts by Konrad Karczewski

The genome Aggregation Database (gnomAD)

Konrad Karczewski and Laurent Francioli

Today, we are pleased to announce the formal release of the genome aggregation database (gnomAD). This release comprises two callsets: exome sequence data from 123,136 individuals and whole genome sequencing from 15,496 individuals. Importantly, in addition to an increased number of individuals of each of the populations in ExAC, we now additionally provide allele frequencies across over 5000 Ashkenazi Jewish (ASJ) individuals. The population breakdown is detailed in the table below.exacv2_barplot_cut.png
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Reproduce all the figures!: a user’s guide to ExAC, part 2

As we were organizing analyses for the ExAC flagship paper, we were inspired by Titus Brown’s manifesto on reproducibility. As with most collaborative papers, we had a core team of analysts, each responsible for their subset of analyses and figure panels. Part of the way through, we realized there were many shared features that we wanted to keep consistent across analyses, particularly variant filtering strategies and annotations. We made the decision to organize the code in a central github repository, which the team members could access and edit as analyses progressed. Today, we are happy to release this code, which you can use to reproduce every figure in the paper!