alterlab-clinvar

SKILLFlujo de trabajocomunidad
v0.0.0AlterLab-IEUMITActualizado hace 1 mFuente →

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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hace 1 mÚltima actualización
Skill
AutorAlterLab-IEU
Versión0.0.0
LicenciaMIT
CategoríaFlujo de trabajo
Formatosskill.md
PromptNo publicado
Compatibilidad
Claude✓ Compatible
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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