home/categories/bioinformatics/internscience-drclaw-drclaw-local-skill-hub-science-gene-rare-disease-genetics-skill-md
bioinformaticsresearch

rare-disease-genetics

Rare Disease Genetic Analysis - Analyze rare disease genetics: Monarch phenotype-disease mapping, ClinVar variants, NCBI gene data, and OpenTargets. Use this skill for rare disease genetics tasks involving get HPO ID by phenotype get joint associated diseases by HPO ID list clinvar search get associated targets by disease efoId. Combines 4 tools from 3 SCP server(s).

InternScience
maintainer
InternScience
更新于 3/13/2026
星标
157
分支
8
quick start

Installation and usage

Rare Disease Genetic Analysis - Analyze rare disease genetics: Monarch phenotype-disease mapping, ClinVar variants, NCBI gene data, and OpenTargets. Use this skill for rare disease genetics tasks involving get HPO ID by phenotype get joint associated diseases by HPO ID list clinvar search get associated targets by disease efoId. Combines 4 tools from 3 SCP server(s).

安装
$ install --globalskills.sh
使用

安装后,您可以通过在终端运行以下命令来使用此技能:

skills use rare-disease-genetics