首页> 外文OA文献 >Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

【2h】

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

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

著录项
引文网络
相似文献
相关主题

著录项

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;
展开▼
作者单位

展开▼
年度 2011
总页数
原文格式 PDF
正文语种
中图分类

相似文献

外文文献
中文文献
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. 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, -1

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
7. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm [O] . Onoufriadis A, Shoemark A, Munye MM, 2014

机译：结合外显子组和全基因组测序鉴定aRmC4中的突变是原发性纤毛运动障碍的原因，外部动力蛋白臂缺陷

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

著录项

引文网络

相似文献

相关主题

期刊订阅