Article
Limitations of exome sequencing in detecting rare and undiagnosed diseases.
American journal of medical genetics. Part A - 1 Jun 2020
Burdick Kendall J, Cogan Joy D, Rives Lynette C, Robertson Amy K, Koziura Mary E, Brokamp Elly, Duncan Laura, Hannig Vickie, Pfotenhauer Jean, Vanzo Rena, Paul Michael S, Bican Anna, Morgan Thomas, Duis Jessica, Newman John H, Hamid Rizwan, Phillips John A
Abstract excerpt
While exome sequencing (ES) is commonly the final diagnostic step in clinical genetics, it may miss diagnoses. To clarify the limitations of ES, we investigated the diagnostic yield of genetic tests beyond ES in our Undiagnosed Diseases Network (UDN) participants. We reviewed the yield of additional genetic testing including genome sequencing (GS), copy number variant (CNV), noncoding variant (NCV), repeat...
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