Article
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.
Clinical genetics - 1 Jan 2022
Yang Lin, Wei Zejun, Chen Xiang, Hu Liyuan, Peng Xiaomin, Wang Jin, Lu Chunmei, Kong Yanting, Dong Xinran, Ni Qi, Lu Yulan, Wu Bingbing, Wang Huijun, Meirelles Katia, Tian Xia, Zhang Jing, Chang Fengqi, Liu Liu, Li Changhua, You Wesley, Cheng Guoqiang, Wang Laishuan, Cao Yun, Chen Chao, Fang Ping, Tang Sha, Zhou Wenhao
Abstract excerpt
Emerging evidence demonstrates the clinical utility of genomic applications in newborn intensive care unit (NICU) patients with strong indications of Mendelian etiology. However, such applications' diagnostic yield and utility remain unclear for NICU cohorts with minimal phenotype selection. In this study, focused medical exome sequencing was used as a first-tier, singleton-focused diagnostic tool for 2303...
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