SCI Skills

数据与复现药物发现与化学信息学FreedomIntelligence/OpenClaw-Medical-Skills数据与复现

PO

popeve-variant-predictor-agent

维护者 FreedomIntelligence · 最近更新 2026年4月1日

Variant pathogenicity prediction using EVE population-based evolutionary models.

OpenClawNanoClaw分析处理复现实验popeve-variant-predictor-agent🧠 bioos extended suitedrug discovery & designvariant

原始来源

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/popeve-variant-predictor-agent

维护者: FreedomIntelligence
许可: MIT
最近更新: 2026年4月1日

技能摘要

来自 SKILL.md 的关键信息

2 min

核心说明

PopEVE Variant Predictor Agent leverages PopEVE 深度学习 model ，面向 Harvard Medical School to predict pathogenicity of genetic variants. PopEVE analyzes evolutionary conservation，protein structure，、 population frequency to identify disease-causing variants，having identified over 100 previously unrecognized variants responsible ，用于 undiagnosed rare genetic diseases。
When predicting pathogenicity of missense variants genome-wide。
用于 rare disease diagnosis ，支持 variants of uncertain significance (VUS)。
To prioritize candidate variants in exome/genome sequencing。
When interpreting novel variants not in ClinVar 或 literature。

原始文档

SKILL.md 摘录

Core Capabilities

Pathogenicity Prediction: Score any missense variant for disease likelihood.
VUS Resolution: Reclassify variants of uncertain significance.
Rare Disease Diagnosis: Identify causal variants in undiagnosed patients.
Population-Aware Scoring: Account for ancestry-specific variant frequencies.
Protein Context Analysis: Integrate structural and functional domains.
Batch Variant Scoring: Process thousands of variants efficiently.

Model Architecture

Component	Description	Data Source
Evolutionary Module	Deep sequence alignment	UniRef90, 250M seqs
Structural Module	AlphaFold2 structures	200M+ structures
Population Module	gnomAD frequencies	800K+ individuals
Clinical Module	ClinVar training	100K+ classifications
Integration	Multi-task neural network	Combined features

Scoring Thresholds

PopEVE Score	Interpretation	Suggested Action
> 0.9	Likely Pathogenic	High priority
0.7 - 0.9	Possibly Pathogenic	Review carefully
0.3 - 0.7	Uncertain	Additional evidence needed
0.1 - 0.3	Possibly Benign	Lower priority
< 0.1	Likely Benign	Deprioritize

适用场景

When predicting pathogenicity of missense variants genome-wide。
用于 rare disease diagnosis ，支持 variants of uncertain significance (VUS)。
To prioriti。

不适用场景

Do not rely on this catalog entry alone ，用于 installation 或 maintenance details。

上游相关技能

AlphaMissense_Agent - For AlphaMissense predictions
DiagAI_Agent - For clinical diagnosis support
ACMG_Classifier_Agent - For ACMG classification
Pharmacogenomics_Agent - For drug-gene variants

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