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Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

机译：靶向凸起的下一代靶向凸起的大规模平行测序以鉴定原发性睫状体瘤中的基因突变：对临床测试的应用意义

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PURPOSEAdvances in genetic sequencing technology have the potential to enhance testing for genes associated with genetically heterogeneous clinical syndromes, such as primary ciliary dyskinesia (PCD). The objective of this study was to investigate the performance characteristics of exon-capture technology coupled with massively parallel sequencing for clinical diagnostic evaluation.

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期刊名称 other
作者
Jonathan S. Berg; James P. Evans; Margaret W. Leigh; Heymut Omran; Chris Bizon; Ketan Mane; Michael R. Knowles; Karen E. Weck; Maimoona A. Zariwala;
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年(卷),期 -1(13),3
年度 -1
页码 218–229
总页数 23
原文格式 PDF
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Next-generation sequencing exon-capture molecular diagnostic testing primary ciliary dyskinesia clinical genetics;

机译：下一代测序;外显子捕获;分子诊断测试;原发性睫状运动障碍;临床遗传学;

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专利

1. Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. [J] . Berg JS, Evans JP, Leigh MW, Genetics in medicine . 2011,第3期

机译：下一代大规模平行测序的目标外显子组，以鉴定原发性睫状运动障碍的基因突变：在临床测试中的应用意义。
2. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm [J] . OnoufriadisA., ShoemarkA., MunyeM.M., Journal of Medical Genetics . 2014,第1期

机译：外显子组和全基因组组合测序可确定ARMC4突变是原发性睫状运动障碍的原因，并伴有外部动力蛋白臂缺陷
3. Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia [J] . Knowles Michael R., Leigh Margaret W., Ostrowski Lawrence E., The American Journal of Human Genetics . 2013,第1期

机译：外显子组测序确定CCDC114中的突变是原发性睫状运动障碍的原因。
4. A Bioinformatics Procedure to Identify and Annotate Somatic Mutations in Whole-Exome Sequencing Data [C] . Roberta Spinelli, Rocco Piazza, Alessandra Pirola, International meeting on computational intelligence methods for bioinformatics and biostatistics . 2012

机译：在整个外显子组测序数据中识别和注释体细胞突变的生物信息学程序
5. Analysis of somatic mutations identified by whole-exome sequencing in colorectal cancer metastasis [D] . Zhao, Bixiao 2016

机译：通过全外显子测序鉴定的大肠癌转移中的体细胞突变分析
6. Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia [O] . Michael R. Knowles, Margaret W. Leigh, Lawrence E. Ostrowski, 2013

机译：外显子组测序确定CCDC114中的突变是原发性睫状运动障碍的原因。
7. Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing [O] . Jonathan S Berg, James P Evans, Margaret W Leigh, 2011

机译：靶向凸起的下一代靶向凸起的大规模平行测序以鉴定原发性睫状体瘤中的基因突变：对临床测试的应用意义

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

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