Articles with "trio genome" as a keyword



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Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China

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Published in 2020 at "Human Genetics"

DOI: 10.1007/s00439-019-02103-8

Abstract: Genome sequencing is used to make genetic diagnoses in critically ill infants with rapid turnaround time (TAT). Herein, to delineate the value of a genetic diagnosis, we provide the results from 130 pediatric patients in… read more here.

Keywords: ill infants; trio genome; critically ill; genome sequencing ... See more keywords