Clinical application of exome sequencing in undiagnosed genetic conditions
نویسندگان
چکیده
منابع مشابه
Clinical 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...
متن کاملEvaluation of exome sequencing variation in undiagnosed ataxias.
Sir, It is with great interest that we read the work of Pyle et al. (2014) on the utility of exome sequencing in achieving molecular diagnosis in ataxia. In particular, we take notice of the higher rate of ‘confirmed pathogenic’ and ‘possible pathogenic’ variants identified in this work as compared to others and question the stringency with which these classifications are applied. As stated by ...
متن کاملReply: Evaluation of exome sequencing variation in undiagnosed ataxias.
(i) Some of our proposed pathogenic variants have a minor allele frequency (MAF) of 40.01 in the population. Although useful as an initial guide, the 1%MAF is an arbitrary cut-off designed to rapidly filter-out common polymorphic genetic variants from a large exome data set. However, this must be done with care for several reasons. First, allele frequencies vary from database to database, and t...
متن کاملDiagnostic application of clinical exome sequencing in Leber congenital amaurosis
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...
متن کاملPractical 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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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2012
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2012-100819