The targeted exome sequencing strategy (NeoExome) for Chinese newborns
with the pilot study of 3423 neonates
Abstract
Newborn screening (NBS) is an effective way for 3-step prevention of
birth defects. The suitable technology and rational NBS screening
diseases are critical for each country and area. High-throughput
sequencing has shown high application potential in NBS. However, lack of
sequencing strategy for monogenic inherited diseases NBS in China. In
this study, we systematically evaluated the application efficiency of
different sequencing approaches for NBS, and a gene-disease association
list (NeoExome panel) for the Chinese population with 601 genes was
designed based on the top rare disease list and databases. In the 1000
Genomes Project, 7.6% (23/301) were NGS positive. Among the 3249
neonates recruited, NGS positive rate was 12.0%. In the 200
conventional NBS (+) subgroup, 118 were NGS positive, with 76.3%
(90/118) neonates harboring consistent results of conventional NBS and
NGS; in the conventional NBS (-) subgroup, the NGS positive rate was
8.9% (271/3049). Our study designed a personal NBS targeted-sequencing
NeoExome panel of monogenic inherited diseases for Chinese, which has
shown acceptable performance.