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Genome sequencing as a first-line diagnostic test for hospitalized newborns

2021-09-11 genetic and genomic medicine Title + abstract only
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PurposeSouthSeq, a translational research study to perform genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder, was conducted in NICUs in the Southeastern US. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas that are historically under-represented in genomic medicine research. MethodsGS and analysis were performed for 367 newborns to detect disease-causal genetic variation concurrent with standard of care evaluation and testing. ...

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