Article

Newborn Screening in Unselected Children Using Genomic Sequencing

2021-01-13

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>The aim of this study is to investigate potentially curable or treatable medical conditions in unselected newborns using genomic sequencing(GS). <bold>Methods:</bold> 321 newborns from a cohort of pregnant women from Qingdao, China, underwent high-depth GS (average 47.42 fold), with the approval of the ethics committee. 61 Mendelian Diseases, 151 Primary Immunod...

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Literature Corpus work: dce99101-f37e-56ac-a620-1f79599a7d55
DOI: 10.21203/rs.3.rs-143405/v1

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