Article

The targeted exome sequencing strategy (NeoExome) for Chinese newborns with the pilot study of 3423 neonates

2022-05-02

Abstract excerpt

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 diff...

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Literature Corpus work: 1b2b41b6-1af3-501c-b34f-5510a2f8e00d
DOI: 10.22541/au.165148208.87086151/v1

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