Today we are pleased to announce the incorporation of manual loss-of-function (LoF) curations into the gnomAD v2.1.1 browser. As of this release, we have curated all homozygous pLoFs and a small set of recessive genes (e.g., GAA, GLA, IDUA, SMPD1, GBA, FIG4, MCOLN1, AP4B1, AP4M1, AP4S1, and AP4E1). These curations were performed for multiple projects including the recently published work, Karczewski et al. 2020 Nature, as well as other gene-specific projects. We are so excited to start sharing this data with you that we are including it in the gnomAD v3.1 release announcement but really these are a new gnomAD v2.1.1 feature at the moment. More datasets will be added to the browser as they are completed.
Posts by Moriel Singer-Berk
The news page highlights new features, versions, or other major announcements. See our changelog for all changes to gnomAD, including minor ones.