Originally published on the MacArthur Lab blog.
We are delighted to announce the release of gnomAD v2.1! This new release of gnomAD is based on the same underlying callset as gnomAD v2.0.2, but has the following improvements and new features:
- An awesome new browser
- Per-gene loss-of-function constraint
- Improved sample and variant filtering processes
- Allele frequencies in sub-continental populations in Europe and East Asia
- Allele frequencies computed for the following subsets of the data:
- Controls-only (no cases from common disease case/control studies)
- Samples not assessed for a neurological phenotype
- Samples that were not part of a cancer cohort
- Samples that are not part of the Trans-Omics for Precision Medicine (TOPMed)-BRAVO dataset
- New annotations for each variant
- Filtering allele frequency using Poisson 95% and 99% CI, per population
- Age histogram of heterozygous and homozygous carriers
gnomAD v2.1 comprises a total of 16mln SNVs and 1.2mln indels from 125,748 exomes, and 229mln SNVs and 33mln indels from 15,708 genomes. In addition to the 7 populations already present in gnomAD 2.0.2, this release now breaks down the non-Finnish Europeans and East Asian populations further into sub-populations. The population breakdown is detailed below.