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Family-based whole-genome sequencing identifies compound heterozygous protein-coding and noncoding mutations in tetralogy of Fallot.

Gene - 30 May 2020

Wang Yifeng, Jiang Tao, Tang Pushi, Wu Yifei, Jiang Zhu, Dai Juncheng, Gu Yayun, Xu Jing, Da Min, Ma Hongxia, Jin Guangfu, Mo Xuming, Li Qingguo, Wang Xiaowei, Hu Zhibin

Abstract excerpt

Tetralogy of Fallot (TOF) is one of most serious cyanotic congenital heart disease (CHD) and the prevalence is estimated to be 1 in 3000 live births worldwide. Though multiple studies have found genetic variants as risk factors for TOF, they could only explain a small fraction of the pathogenesis. Here, we performed whole genome sequencing (WGS) for 6 individuals derived from 2 families to evaluate pathogenic...

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PMID: 32165302
DOI: 10.1016/j.gene.2020.144555

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