• Stars
    star
    4
  • Rank 3,304,323 (Top 66 %)
  • Language
    R
  • Created over 5 years ago
  • Updated about 4 years ago

Reviews

There are no reviews yet. Be the first to send feedback to the community and the maintainers!

Repository Details

R script to 1) Extract missense variants that had been observed in "clinical testing" (as opposed to "literature only") in ClinVar. 2) Calculating movability and reappearance parameters using the aggregated and capped Invitae variant counts. 3) Apply the movability and reappearance parameters to ClinVar genes, calculating their movability- and reappearance-weighted impact score (MARWIS), as well as their difficulty-adjusted impact score (DAIS). 4) Rank ClinVar genes.