Whole exome sequencing uncovers rare variants associated with PCOS susceptibility in Indian women.

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Tác giả: Mahalakshmi Bhat, Roshan Dadachanji, Srabani Mukherjee, Anushree Patil, Medini Samant, Digumarthi V S Sudhakar

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : Systems biology in reproductive medicine , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 707741

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Polycystic ovary syndrome (PCOS) is a complex polygenic endocrinopathy affecting 5-20% of reproductive-age women. Familial studies, candidate gene studies, and GWAS have identified multiple PCOS-associated genetic loci. This study aims to identify the functional variants associated with PCOS. We applied whole exome sequencing (WES) to identify functional variants among eighty-five well-characterized women with PCOS. The annotated variants were filtered based on minor allele frequency and

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