gnomad_table: gnomAD mutational constraint (pLI) annotations

In lagelab/Genoppi: genoppi

gnomAD mutational constraint (pLI) annotations

Description

A dataset containing gnomAD pLI scores for 19,704 genes. The pLI score estimates the probability that a gene is intolerant of loss-of-function mutations.

Usage

gnomad_table

Format

A data frame with 19,704 rows and 2 variables:

gene

HGNC gene symbol

pLI

pLI score

Source

pLoF Metrics by Gene dataset (v2.1.1) downloaded from: https://gnomad.broadinstitute.org/downloads#v2-constraint

References

Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285-291. doi:10.1038/nature19057

Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434-443. doi:10.1038/s41586-020-2308-7

See Also

Other datasets: accession_gene_table, bioplex_table, example_data2, example_data3, example_data, genes_snps, goa_bp_table, goa_cc_table, goa_mf_table, gtex_protein, gtex_rna, gwas_table, hgnc_group_table, hpa_rna, inweb_table, irefindex_table, msigdb_c1_table, msigdb_c2_table, msigdb_c3_table, msigdb_c4_table, msigdb_c5_table, msigdb_c6_table, msigdb_c7_table, msigdb_h_table

lagelab/Genoppi documentation built on Oct. 13, 2022, 2:36 p.m.