ClinGen
收藏国家生物信息中心2025-10-11 更新2025-03-15 收录
下载链接：
https://www.clinicalgenome.org/start/
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资源简介：
ClinGen (Clinical Genome Resource) is a NIH-funded consortium that curates and standardizes the clinical relevance of genes and genomic variants for use in precision medicine and research. It provides expert-reviewed evidence about gene-disease relationships, variant pathogenicity classifications, and dosage sensitivity information through structured curation processes. ClinGen develops frameworks like the gene-disease clinical validity classification system and variant pathogenicity guidelines, making its curated data publicly accessible through online databases to support clinical genetic testing and diagnosis.
提供机构：
none
创建时间：
2023-08-23
