职业

Genetic Counselors

16 个技能

AI 推荐

16 个技能

职业

Genetic Counselors

16 个技能

AI 推荐

16 个技能

Family Health Analyzer

分析家族病史、评估遗传风险、识别家庭健康模式、提供个性化预防建议

sickn3333.8k

机器学习

ACMG/AMP Variant Classification

Systematic ACMG/AMP variant classification using ToolUniverse tools. Given a genetic variant (HGVS, rsID, or gene+change), applies all 28 ACMG criteria (PVS1, PS1-4, PM1-6, PP1-5, BA1, BS1-4, BP1-7) through automated database queries and computational predictions. Produces a final 5-tier classification (Pathogenic / Likely Pathogenic / VUS / Likely Benign / Benign) with evidence summary. Use when asked to classify a variant, interpret a VUS, apply ACMG criteria, assess pathogenicity, or determine clinical significance of a germline variant.

mims-harvard1.3k

生物信息学

wu-yc-labclaw-skills-bio-tooluniverse-variant-interpretation-skill-md

Systematic clinical variant interpretation from raw variant calls to ACMG-classified recommendations with structural impact analysis. Aggregates evidence from ClinVar, gnomAD, CIViC, UniProt, and PDB across ACMG criteria. Produces pathogenicity scores (0-100), clinical recommendations, and treatment implications. Use when interpreting genetic variants, classifying variants of uncertain significance (VUS), performing ACMG variant classification, or translating variant calls to clinical actionability.

wu-yc965

生物信息学

Genetic Counseling Report

Genetic Counseling Variant Report - Generate variant report for genetic counseling: VEP, ClinVar, gene phenotype, and literature evidence. Use this skill for clinical genetics tasks involving get vep hgvs clinvar search get phenotype gene pubmed search. Combines 4 tools from 2 SCP server(s).

SpectrAI-Initiative375

生物信息学

Genetic Counseling Report

Genetic Counseling Variant Report - Generate variant report for genetic counseling: VEP, ClinVar, gene phenotype, and literature evidence. Use this skill for clinical genetics tasks involving get vep hgvs clinvar search get phenotype gene pubmed search. Combines 4 tools from 2 SCP server(s).

InternScience132

计算化学

Tooluniverse Rare Disease Diagnosis

Provide differential diagnosis for patients with suspected rare diseases based on phenotype and genetic data. Matches symptoms to HPO terms, identifies candidate diseases from Orphanet/OMIM, prioritizes genes for testing, interprets variants of uncertain significance. Use when clinician asks about rare disease diagnosis, unexplained phenotypes, or genetic testing interpretation.

Zaoqu-Liu44

生物信息学

Interpreting Genetic Testing

Structures genetic test result interpretation with variant classification (ACMG criteria) and clinical actionability. Use when interpreting genetic results, classifying variants, or documenting genetic findings.

CaseMark12

科学计算

Omia Database

Query OMIA (Online Mendelian Inheritance in Animals) for inherited disorders and traits cataloged across species. The veterinary equivalent of OMIM. Use for genetic disease research and breed predisposition data.

OpenVet-Projects7

健康养生

Family Health Analyzer

分析家族病史、评估遗传风险、识别家庭健康模式、提供个性化预防建议

kursku7

健康养生

Family Health Analyzer

分析家族病史、评估遗传风险、识别家庭健康模式、提供个性化预防建议

techwavedev3

健康养生

Family

Family health management including member records, medical history tracking, genetic risk assessment, and health reports

huifer3

健康养生

Family Health Analyzer

分析家族病史、评估遗传风险、识别家庭健康模式、提供个性化预防建议

JantonioFC2

生物信息学

nam4802-lenapics-skills-labclaw-bio-tooluniverse-variant-interpretation-skill-md

Systematic clinical variant interpretation from raw variant calls to ACMG-classified recommendations with structural impact analysis. Aggregates evidence from ClinVar, gnomAD, CIViC, UniProt, and PDB across ACMG criteria. Produces pathogenicity scores (0-100), clinical recommendations, and treatment implications. Use when interpreting genetic variants, classifying variants of uncertain significance (VUS), performing ACMG variant classification, or translating variant calls to clinical actionability.

Nam48020

健康养生

Family Health Analyzer

分析家族病史、评估遗传风险、识别家庭健康模式、提供个性化预防建议

foolhardy450

计算化学

Bio Variant Calling Clinical Interpretation

Clinical variant interpretation using ClinVar, ACMG guidelines, and pathogenicity predictors. Prioritize variants for diagnostic and research applications. Use when interpreting clinical significance of variants.

huamu6680

调试

Profile Report

Unified personal genomic profile report — reads a PatientProfile JSON and synthesizes all skill results into a single "Your Genomic Profile" document.

huamu6680