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tooluniverse-gwas-snp-interpretation

Interpret genetic variants (SNPs) from GWAS studies by aggregating evidence from multiple databases (GWAS Catalog, Open Targets Genetics, ClinVar). Retrieves variant annotations, GWAS trait associations, fine-mapping evidence, locus-to-gene predictions, and clinical significance. Use when asked to interpret a SNP by rsID, find disease associations for a variant, assess clinical significance, or answer questions like "What diseases is rs429358 associated with?" or "Interpret rs7903146".

mims-harvard
maintainer
mims-harvard
آخر تحديث 3/29/2026
النجوم
1240
التفرعات
191
quick start

Installation and usage

Interpret genetic variants (SNPs) from GWAS studies by aggregating evidence from multiple databases (GWAS Catalog, Open Targets Genetics, ClinVar). Retrieves variant annotations, GWAS trait associations, fine-mapping evidence, locus-to-gene predictions, and clinical significance. Use when asked to interpret a SNP by rsID, find disease associations for a variant, assess clinical significance, or answer questions like "What diseases is rs429358 associated with?" or "Interpret rs7903146".

التثبيت
$ install --globalskills.sh
الاستخدام

بعد التثبيت، يمكنك استخدام هذه المهارة بتشغيل الأمر التالي في الطرفية:

skills use tooluniverse-gwas-snp-interpretation