Variant interpretation using population databases: Lessons from gnomAD.

"the gnomad data are in part based on data that are available in topmed or dbgap including: (1) generated by the cancer genome atlas (tcga) managed by the nci and nhgri (accession: phs000178 v10 p8); information about tcga can be found at http://cancergenome nih gov ; (2) generated by the genotype-tissue expression project (gtex) managed by the nih common fund and nhgri (accession: phs000424 v7 p2); (3) generated by the alzheimer's disease sequencing project (adsp) managed by the nia and nhgri (accession: phs000572 v7 p4). data sharing policy (not-od-03-032) to reduce the risk of subject identification. the gnomad database aggregates data from over 195000"

"CONFLICT OF INTERESTS D.G.M. is a founder with equity of Goldfinch Bio, and serves as a paid advisor to GSK, Variant Bio, Insitro, and Foresite Labs. A.O.‐D.L. is on the Scientific Advisory Board for Congenica."

"We thank the individuals whose data is in gnomAD for their contributions to research. We thank Ellie Seaby for generous data sharing and inspiration for Figure 2c (Seaby et al., 2021) and Kaitlin Samocha for guidance on constraint interpretation. Development of the Genome Aggregation Database was supported by NIDDK U54 DK105566 and the NHGRI of the National Institutes of Health under award number U24HG011450. Development of the gnomAD browser for rare disease interpretation is supported in part by National Human Genome Research Institute UM1HG008900 to H.L.R., D.G.M., and A.O‐D.L.; U01HG011755 to A.O‐D.L. and H.L.R.; U24HG011450 to H.L.R.; and the National Institute of Diabetes and Digestive and Kidney Diseases U54DK105566 to D.G.M. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. S.G. was supported by The Wallenberg Foundation scholarship program for postdoctoral studies at MIT and the Broad Institute."