New gnomAD v4.1 tracks for hg38

[Gerardo Perez]

Hello Everyone,

We are excited to release six new Genome Aggregation Database (gnomAD) v4.1 tracks for human assembly hg38/GRCh38. The new tracks are found in the gnomAD superTrack:

• gnomAD v4.1 (composite track):
• Genome variants: Variants from 76,215 genomes
• Exome Variants: Variants from 730,947 exomes
• gnomAD Constraint Metrics (composite track):
• Transcript LoF v4.1: Predicted Loss of Function Constraint Metrics By Transcript (LOEUF and pLI) v4.1
• Transcript Missense v4.1: Predicted Missense Constraint Metrics By Transcript (Z-scores) v4.1
• gnomAD Rare CNV Variants: Rare CNV variants (<1% overall site frequency)
• gnomAD Structural Variants: Structural Variants v4.1

gnomAD v4.1: The gnomAD v4.1 data release replaces the v4 Pre-Release track and fixes the allele number issue. The data contains two subtracks from a total of 807,162 individuals: one for genome variant calls and one for exome variants.

gnomAD Constraint Metrics: Contains metrics of pathogenicity per-gene as predicted for gnomAD v4.1 and identifies genes subject to strong selection against various classes of mutation. The release of the gnomAD v4.1 constraint metrics consists of two new subtracks in the gnomAD Constraint Metrics composite: Transcript LoF v4.1 and Transcript Missense v4.1

gnomAD Rare CNV Variants: Displays rare autosomal coding copy number variants (CNVs) with an overall site frequency of less than 1%. These variants were identified from exome sequencing (ES) data of 464,297 individuals.

gnomAD Structural Variants: Shows structural variants calls (>=50 nucleotides) from 63,046 unrelated genomes. It mostly (but not entirely) overlaps with the genome set used for the gnomAD short variant release.

We would like to thank the Genome Aggregation Database Consortium for making these data available. We would also like to thank Chris Lee, Ana Benet-Pagès, Luis Nassar, and Gerardo Perez for the creation and release of these tracks.