Clinical diagnostic sequencing
نویسندگان
چکیده
منابع مشابه
Diagnostic 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 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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PURPOSE Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy with wide genetic heterogeneity. Next-generation sequencing (NGS) targeting multiple genes can be a good option for the diagnosis of LCA, and we tested a clinical exome panel in patients with LCA. METHODS A total of nine unrelated Korean patients with LCA were sequenced using the Illumina TruSight One panel, which targ...
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Diagnostic Yield of Clinical Next-Generation Sequencing Panels for Epilepsy During the past 2 years, next-generation DNA sequencing (NGS) has become a widespread diagnostic tool in neurology. Several studies have addressed the diagnostic yield and cost of NGS relative to other types of DNA testing. G-banded karyotyping identifies chromosomal aberrations and has a 3% diagnostic yield for unexpla...
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Ocular involvement in lymphoma is a relatively rare condition that can result from a primary intraocular lymphoma or an intraocular manifestation of systemic lymphoma. Lymphoma manifestations frequently masquerade as other more benign intraocular conditions including allergic or infectious conjunctivitis, uveitis, multiple evanescent white dot syndrome, acute retinal necrosis, or herpetic retin...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2013
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.2818