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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

28 Sept 2018

Abstract excerpt

BACKGROUND: Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has been more limited. One reason for this is the paucity of information about the clinical utility of exome sequencing in the prenatal setting. METHODS: We retrospectively reviewed indications, results, time to results (turnaround time, TAT), and impact of...

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Share to Fetal and Pediatric Neurological Disorders
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PMID: 30266093
DOI: 10.1186/s13073-018-0582-x

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