The ClinGen gene-disease validity table — clingen_gene

Fetches the whole published CSV. See the note in the file header on why this is one download rather than a request per gene, and use clingen_validity_for() to narrow the result.

Usage

clingen_gene_validity(...)

Arguments

...: Passed to biohttp::get_text(), for example timeout.

Value

A biohttp envelope whose data is the tibble described in clingen_parse_validity().

References

Strande et al. (2017). Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource. The American Journal of Human Genetics 100(6), 895-906. doi:10.1016/j.ajhg.2017.04.015

Service documentation: https://search.clinicalgenome.org/

Examples

# \donttest{
table <- biohttp::body_or_null(clingen_gene_validity())
clingen_validity_for(table, c("NF1", "TP53"))
#> # A tibble: 3 × 10
#>   gene  hgnc     disease mondo moi   classification sop   panel date  source_url
#>   <chr> <chr>    <chr>   <chr> <chr> <chr>          <chr> <chr> <chr> <chr>     
#> 1 NF1   HGNC:77… famili… MOND… AD    No Known Dise… SOP4  Brea… 2017… https://s…
#> 2 NF1   HGNC:77… neurof… MOND… AD    Definitive     SOP7  Gene… 2019… https://s…
#> 3 TP53  HGNC:11… Li-Fra… MOND… AD    Definitive     SOP10 Here… 2024… https://s…
# }