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Pilot study of expanded newborn screening for 573 genes related to severe diseases in China: results from 1173 newborns

2019-11-18

Abstract excerpt

<title>Abstract</title> <p>Background: Current newborn screening (NBS) in China is mainly aimed at detecting biochemical levels of metabolites in the blood, which may generate false positive/negative results. To explore whether next-generation sequencing (NGS) for dried blood spots can increase the detecting rate of genetic disorders, we carried out a pilot study using NGS in 1,173 newborns who had been tested by...

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Literature Corpus work: 8a1b0919-78dc-52f3-bc24-708a74f9b911
DOI: 10.21203/rs.2.13332/v3

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