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zja2004/SNV-judge

SkillsMP has collected 2 skills from zja2004/SNV-judge. Open a skill to review its source and details.

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Skills in this repository

Showing 2 of 2 collected skills.

snv-judge

occupation
Medical Scientists, Except Epidemiologists
description

Predict the pathogenicity of a human missense SNV (single nucleotide variant) using SNV-judge v5.2. Returns a calibrated probability (0–1), ACMG 5-tier classification (P/LP/VUS/LB/B), per-feature SHAP contributions, and optionally a full LLM-generated…

updated

snv-judge

occupation
Medical Scientists, Except EpidemiologistsBiological Scientists, All Other
description

Predict the pathogenicity of a human missense SNV (single nucleotide variant) using SNV-judge v5.2. Returns a calibrated probability (0–1), ACMG 5-tier classification (P/LP/VUS/LB/B), per-feature SHAP contributions, and optionally a full LLM-generated…

updated
Showing 2 of 2 collected skills.