Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE
نویسندگان
چکیده
منابع مشابه
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy
Dilated cardiomyopathy (DCM) is a heritable, genetically heterogeneous disorder characterized by progressive heart failure. DCM typically remains clinically silent until adulthood, yet symptomatic disease can develop in childhood. We sought to identify the genetic basis of pediatric DCM in 15 sporadic and three affected-siblings cases, comprised of 21 affected children (mean age, five years) wh...
متن کاملSingle nucleotide variant sequencing errors in whole exome sequencing using the Ion Proton System
Errors in sequencing are a major obstacle in the interpretation of next-generation sequencing (NGS) results. In the present study, sequencing errors identified from analysis of single nucleotide variants (SNVs) identified during exome sequencing of human germline DNA were studied using the Thermo Fisher Ion Proton System. Two consanguineous cases were selected for sequencing using the AmpliSeq ...
متن کاملDiagnostic clinical genome and exome sequencing.
From the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (L.G.B.); and the Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, and Partners Healthcare Personalized Medicine — all in Boston (R.C.G.). Address reprint requests to Dr. Biesecker at 49 Convent Dr., Rm. 4A56, Bethesda, MD 20892-4472, or at lesb@ma...
متن کاملDiagnostic and cost utility of whole exome sequencing in peripheral neuropathy
OBJECTIVE To explore the diagnostic utility and cost effectiveness of whole exome sequencing (WES) in a cohort of individuals with peripheral neuropathy. METHODS Singleton WES was performed in individuals recruited though one pediatric and one adult tertiary center between February 2014 and December 2015. Initial analysis was restricted to a virtual panel of 55 genes associated with periphera...
متن کاملDiagnostic Clinical Genome and Exome Sequencing
From the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (L.G.B.); and the Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, and Partners Healthcare Personalized Medicine — all in Boston (R.C.G.). Address reprint requests to Dr. Biesecker at 49 Convent Dr., Rm. 4A56, Bethesda, MD 20892-4472, or at lesb@ma...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2020
ISSN: 0009-9163,1399-0004
DOI: 10.1111/cge.13848