Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Wendy K Chung, David N Cooper, Bruce D Gelb, Peter J Gruber, Yuval Itan, Meltem Ece Kars, Christine E Seidman, Yufeng Shen, David Stein, Peter D Stenson, Martin Tristani-Firouzi

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : American journal of human genetics , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 712625

 Congenital heart disease (CHD) is the most common congenital anomaly and a leading cause of infant morbidity and mortality. Despite extensive exploration of the monogenic causes of CHD over the last decades, ∼55% of cases still lack a molecular diagnosis. Investigating digenic interactions, the simplest form of oligogenic interactions, using high-throughput sequencing data can elucidate additional genetic factors contributing to the disease. Here, we conducted a comprehensive analysis of digenic interactions in CHD by utilizing a large CHD trio exome sequencing cohort, comprising 3,910 CHD and 3,644 control trios. We extracted pairs of presumably deleterious rare variants observed in CHD-affected and unaffected children but not in a single parent. Burden testing of gene pairs derived from these variant pairs revealed 29 nominally significant gene pairs. These gene pairs showed a significant enrichment for known CHD genes (p <
  1.0 × 10
Tạo bộ sưu tập với mã QR

THƯ VIỆN - TRƯỜNG ĐẠI HỌC CÔNG NGHỆ TP.HCM

ĐT: (028) 36225755 | Email: tt.thuvien@hutech.edu.vn

Copyright @2024 THƯ VIỆN HUTECH