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bio-clinical-databases-clinvar-lookup
Query ClinVar for variant pathogenicity classifications, review status, and disease associations via REST API or local VCF. Use when determining clinical significance of variants for diagnostic or research purposes.
maintainer
GPTomics
์
๋ฐ์ดํธ๋จ 2026. 2. 13.
์คํ
471
ํฌํฌ
81
quick start
Installation and usage
Query ClinVar for variant pathogenicity classifications, review status, and disease associations via REST API or local VCF. Use when determining clinical significance of variants for diagnostic or research purposes.
์ค์น
$ install --globalskills.sh
์ฌ์ฉ๋ฒ
์ค์น ํ ํฐ๋ฏธ๋์์ ๋ค์ ๋ช ๋ น์ ์คํํ์ฌ ์ด ์คํฌ์ ์ฌ์ฉํ ์ ์์ต๋๋ค:
skills use bio-clinical-databases-clinvar-lookup