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Clinical Variant Prioritizer

ClawBio/clinical-variant-prioritizer

Screen a genotype set (array or WGS-derived) against OMIM-morbid, ACMG-SF and Hereditary-Cancer gene panels and prioritise carried variants by ClinVar significance, gnomAD frequency, inheritance model and zygosity, following the pathogenicity-screening method of Corpas et al....

communityprovisionalaiscreengenotypeset

skillrank score

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SkillRank score blends community stars, real usage, and our eval lift; provisional until a skill is evaluated -- so popularity alone can't reach the top tier.

source

1.1k

ClawBio/ClawBio

skills/clinical-variant-prioritizer

open on GitHub ▸

eval status

eval pending

Success delta, token delta, and trial count are not available yet. No eval number is shown until this skill has measured results.

install

$ skillrank install ClawBio/clinical-variant-prioritizer
$ curl -fsSL skillrank.dev | sh