Gene constraint for one gene — gnomad

How intolerant a gene is to variation. pli and loeuf summarize loss-of-function intolerance; the Z-scores summarize missense and synonymous depletion.

Usage

gnomad_constraint(symbol, reference_genome = "GRCh38", ...)

Arguments

symbol: A gene symbol.
reference_genome: "GRCh38" or "GRCh37".
...: Passed to biohttp::post_json(), for example throttle.

Value

A biohttp envelope whose data is a one-row tibble. See gnomad_parse_constraint().

References

Chen et al. (2024). A genomic mutational constraint map using variation in 76,156 human genomes. Nature 625(7993), 92-100. doi:10.1038/s41586-023-06045-0

Service documentation: https://gnomad.broadinstitute.org/

Examples

# \donttest{
biohttp::body_or_null(gnomad_constraint("BRAF"))
#> # A tibble: 1 × 8
#>   symbol   pli loeuf oe_lof oe_mis mis_z syn_z lof_z
#>   <chr>  <dbl> <dbl>  <dbl>  <dbl> <dbl> <dbl> <dbl>
#> 1 BRAF   1.000 0.232  0.153  0.577  5.52  1.02  7.35
# }