Exome sequencing explained: a practical guide to its clinical application
نویسندگان
چکیده
منابع مشابه
Practical considerations in the clinical application of whole-exome sequencing.
Despite the exciting advent of whole-exome sequencing (WES) in medical genetics practices, the optimal interpretation of results requires further actions such as reconsidering clinical information and obtaining further laboratory testing. There are no published data to guide clinicians in this process. In a retrospective study on 93 patients who underwent clinical WES, we set out to assess and ...
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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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complement to a standard echocardiographic text, such as the one as written by Dr. Paperbound. Recent advances in molecular biology that allow one to diagnose and study the pathogenesis of viruses along with current strides in rational drug design have provided the clinician with an abundance of facts relevant to the practice of clinical medicine. With so much information scattered throughout t...
متن کاملClinical application of exome sequencing in undiagnosed genetic conditions
BACKGROUND There is considerable interest in the use of next-generation sequencing to help diagnose unidentified genetic conditions, but it is difficult to predict the success rate in a clinical setting that includes patients with a broad range of phenotypic presentations. METHODS The authors present a pilot programme of whole-exome sequencing on 12 patients with unexplained and apparent gene...
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Rapidly accruing knowledge of the mutational landscape of malignant neoplasms, the increasing facility of massively parallel genomic sequencing, and the availability of drugs targeting many "driver" molecular abnormalities have spurred the oncologic community to consider how to use these new tools to improve cancer treatment. In order to assure that assignment of patients to a particular target...
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ژورنال
عنوان ژورنال: Briefings in Functional Genomics
سال: 2015
ISSN: 2041-2649,2041-2657
DOI: 10.1093/bfgp/elv054