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Farwell, Kelly D; Shahmirzadi, Layla; El-Khechen, Dima; Powis, Zöe; Chao, Elizabeth C; Tippin Davis, Brigette; Baxter, Ruth M; Zeng, Wenqi; Mroske, Cameron; Parra, Melissa C; Gandomi, Stephanie K; Lu, Ira; Li, Xiang; Lu, Hong; Lu, Hsiao-Mei; Salvador, David; Ruble, David; Lao, Monica; Fischbach, Soren; Wen, Jennifer; Lee, Shela; Elliott, Aaron; Dunlop, Charles L M; Tang, Sha
Genetics in medicine, 07/2015, Letnik: 17, Številka: 7Journal Article
Diagnostic exome sequencing was immediately successful in diagnosing patients in whom traditional technologies were uninformative. Herein, we provide the results from the first 500 probands referred to a clinical laboratory for diagnostic exome sequencing. Family-based exome sequencing included whole-exome sequencing followed by family inheritance-based model filtering, comprehensive medical review, familial cosegregation analysis, and analysis of novel genes. A positive or likely positive result in a characterized gene was identified in 30% of patients (152/500). A novel gene finding was identified in 7.5% of patients (31/416). The highest diagnostic rates were observed among patients with ataxia, multiple congenital anomalies, and epilepsy (44, 36, and 35%, respectively). Twenty-three percent of positive findings were within genes characterized within the past 2 years. The diagnostic rate was significantly higher among families undergoing a trio (37%) as compared with a singleton (21%) whole-exome testing strategy. Overall, we present results from the largest clinical cohort of diagnostic exome sequencing cases to date. These data demonstrate the utility of family-based exome sequencing and analysis to obtain the highest reported detection rate in an unselected clinical cohort, illustrating the utility of diagnostic exome sequencing as a transformative technology for the molecular diagnosis of genetic disease.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Vir: Osebne bibliografije
in: SICRIS
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