alterlab-clinvar

SKILLFlusso di lavorocommunity
v0.0.0AlterLab-IEUMITAggiornato 1 mesi faFonte →

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

Community-submitted skill. Not yet reviewed by the Forge team. Full prompt content may not be available.Request review →
59Stelle del repo
1Client
1Formati
1 mesi faUltimo aggiornamento
Skill
AutoreAlterLab-IEU
Versione0.0.0
LicenzaMIT
CategoriaFlusso di lavoro
Formatiskill.md
PromptNon pubblicato
Compatibilità
Claude✓ Supportato
Cursor
Copilot
ChatGPT
Gemini
Descrizione

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

Parole chiave
skillclaude