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Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples

1 Oct 2018

Abstract excerpt

Expanded carrier screening (ECS) has been demonstrated to increase the detection rate of carriers compared with traditional tests. The aim of this study was to assess the potential value of ECS for clinical application in Southern China, a region with high prevalence of thalassemia and with diverse ethnic groups, and to provide a reference for future implementations in areas with similar population...

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PMID: 30275481
DOI: 10.1038/s41431-018-0253-9

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