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Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management

20 Aug 2020

Abstract excerpt

OBJECTIVE: Use next-generation sequencing (NGS) technology to improve our diagnostic yield in patients with suspected genetic disorders in the Asian setting. DESIGN: A diagnostic study conducted between 2014 and 2019 (and ongoing) under the Singapore Undiagnosed Disease Program. Date of last analysis was 1 July 2019. SETTING: Inpatient and outpatient genetics service at two large academic centres in Singapore....

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PMID: 32819910
DOI: 10.1136/archdischild-2020-319180

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