alterlab-clinvar

SKILLWorkflowcommunauté
v0.0.0AlterLab-IEUMITMis à jour il y a 1 moisSource →

Query NCBI ClinVar via the E-utilities API or FTP for the clinical significance (pathogenicity) of human germline genetic variants, searching by gene, variant, condition, or genomic position and interpreting ACMG/AMP classifications and review-status star ratings. Use when assessing whether a varian

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il y a 1 moisDernière mise à jour
Skill
AuteurAlterLab-IEU
Version0.0.0
LicenceMIT
CatégorieWorkflow
Formatsskill.md
PromptNon publié
Compatibilité
Claude✓ Pris en charge
Cursor
Copilot
ChatGPT
Gemini
À propos

Query NCBI ClinVar via the E-utilities API or FTP for the clinical significance (pathogenicity) of human germline genetic variants, searching by gene, variant, condition, or genomic position and interpreting ACMG/AMP classifications and review-status star ratings. Use when assessing whether a variant is pathogenic, likely pathogenic, VUS, likely benign, or benign, resolving conflicting interpretat

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