Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates

ConclusionWe successfully designed a NeoEXOME panel for targeted sequencing of monogenic inherited diseases in NBS. The panel demonstrated high performance in the Chinese population, particularly for the early detection of diseases with no biochemical markers.

Source: Molecular Genetics & Genomic Medicine - January 18, 2024 Category: Genetics & Stem Cells Authors: Ziyang Cao, Xiaoyan He, Dongjuan Wang, Maosheng Gu, Feng Suo, Rong Qiang, Ruixue Zhang, Chengrong Song, Xiaohua Wang, Bo Zhu, Donghua Cao, Haihua Yu, Yiping Qu, Guosong Shen, Jian Wu, Pengpeng Wang, Jinxia Wang, Hongyang Zhang, Zijun Yan Tags: ORIGINAL ARTICLE Source Type: research