New gnomAD Constraint Metrics track on GRCh38/hg38

1 view
Skip to first unread message

Gerardo Perez

unread,
Jun 30, 2022, 5:39:26 PMJun 30
to genome-...@soe.ucsc.edu

Hello Everyone,

We are pleased to announce the Genome Aggregation Database (gnomAD) Constraint Metrics track, previously only on hg19, is now also available on the human GRCh38/hg38 genome assembly.

These data show various metrics of pathogenicity per-gene as predicted for gnomAD v2.1.1 and identifies genes subject to strong selection against various classes of mutation. It is comprised of four subtracks:

  • Gene LoF – gnomAD Predicted Loss of Function Constraint Metrics By Gene (pLI)
  • Gene Missense – gnomAD Predicted Missense Constraint Metrics By Gene (Z-scores)
  • Transcript LoF – gnomAD Predicted Loss of Function Constraint Metrics By Transcript (pLI)
  • Transcript Missense – gnomAD Predicted Missense Constraint Metrics By Transcript (Z-scores)

More information on this track can be found in the track description page, as well as the gnomAD site. We would like to thank the Genome Aggregation Database Consortium for making these data available. We would also like to thank Lou Nassar, Maximilian Haeussler, Anna Benet-Pages, and Gerardo Perez for their work in creating and releasing these tracks.

Reply all
Reply to author
Forward
0 new messages