Skip to main content

zja2004/SNV-judge

Latest recorded source activity
SkillsMP catalog refreshed
skills collected
2
GitHub stars
1
GitHub forks
0

Install with an AI assistant

Copy this prompt into the AI assistant you're using.

Loading the repository README…

Skills in this repository

Showing 2 of 2 collected skills.

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
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.