Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience
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DOI: 10.1038/gim.2017.195
Abstract: PurposeTo evaluate the performance of proband-only medical exome sequencing (POMES) as a cost-effective first-tier diagnostic test for pediatric patients with unselected conditions.MethodsA total of 1,323 patients were tested by POMES, which targeted 2,742 known disease-causing… read more here.
Keywords: exome sequencing; proband medical; diagnosis; cost effective ... See more keywords
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients
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DOI: 10.1111/cge.13102
Abstract: Although whole‐exome sequencing (WES) is the gold standard for the diagnosis of neurodevelopmental disorders (NDDs), it remains expensive for some genetic centers. Commercialized panels comprising all OMIM‐referenced genes called “medical exome” (ME) constitute an alternative… read more here.
Keywords: exome sequencing; diagnosis; experience clinical; medical exome ... See more keywords
Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China
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DOI: 10.3389/fgene.2022.943058
Abstract: Purpose: Expanded carrier screening (ECS) is an effective method to identify at-risk couples (ARCs) and avoid birth defects. This study aimed to reveal the carrier spectrum in the Chinese population and to delineate an expanded… read more here.
Keywords: carrier; carrier screening; assisted reproductive; exome sequencing ... See more keywords