Article
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.
Molecular genetics & genomic medicine - 1 Oct 2020
Kuo Chieh-Wen, Hwu Wuh-Liang, Chien Yin-Hsiu, Hsu Ching, Hung Miao-Zi, Lin I-Lin, Lai Feipei, Lee Ni-Chung
Abstract excerpt
BACKGROUND: Exome sequencing has recently become more readily available, and more information about incidental findings has been disclosed. However, data from East Asia are scarce. We studied the application of exome sequencing to the identification of pathogenic/likely pathogenic variants in the ACMG 59 gene list and the frequency of these variants in the Taiwanese population. METHODS: This study screened 161...
Topics
- Copper-Transporting ATPases
- Gene Frequency
- Humans
- Mutation
- Population
- Taiwan
- Exome Sequencing