bioinformaticsresearch
clinvar-database
Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.
maintainer
wu-yc
์
๋ฐ์ดํธ๋จ 2026. 3. 6.
์คํ
950
ํฌํฌ
140
quick start
Installation and usage
Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.
์ค์น
$ install --globalskills.sh
์ฌ์ฉ๋ฒ
์ค์น ํ ํฐ๋ฏธ๋์์ ๋ค์ ๋ช ๋ น์ ์คํํ์ฌ ์ด ์คํฌ์ ์ฌ์ฉํ ์ ์์ต๋๋ค:
skills use clinvar-database