alterlab-clinvar

SKILLWorkflowCommunity
v0.0.0AlterLab-IEUMITAktualisiert vor 1 Mon.Quelle →

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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vor 1 Mon.Letzte Aktualisierung
Skill
AutorAlterLab-IEU
Version0.0.0
LizenzMIT
KategorieWorkflow
Formateskill.md
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Kompatibilität
Claude✓ Unterstützt
Cursor
Copilot
ChatGPT
Gemini
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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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