Pure.
Value
A tibble of symbol, confidence (the raw level PanelApp sent),
level ("green", "amber", "red", or NA for anything else),
hgnc_id, and source_url. NULL when the panel has no genes.
Details
Every gene on the panel is returned, red included. See the note in the file header on why the confidence level is not converted to a weight here.
References
Martin et al. (2019). PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nature Genetics 51(11), 1560-1565. doi:10.1038/s41588-019-0528-2
Service documentation: https://panelapp.genomicsengland.co.uk/
Examples
body <- list(id = 255, genes = list(
list(
entity_name = "NF1",
gene_data = list(gene_symbol = "NF1", hgnc_id = "HGNC:7765"),
confidence_level = "3"
)
))
panelapp_parse_panel(body)
#> # A tibble: 1 × 5
#> symbol confidence level hgnc_id source_url
#> <chr> <chr> <chr> <chr> <chr>
#> 1 NF1 3 green HGNC:7765 https://panelapp.genomicsengland.co.uk/pane…