One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation-论文-万方医学网

首页> > One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

导出原文传递

翻译打印收藏纠错

第一作者： Lincoln, Stephen E.

作者： Lincoln, Stephen E. ^[1] ; Hambuch, Tina ^[2] ; Zook, Justin M. ^[3] ; Bristow, Sara L. ^[4] ; Hatchell, Kathryn ^[5] ; Truty, Rebecca ^[6] ; Kennemer, Michael ^[7] ; Shirts, Brian H. ^[8] ; Fellowes, Andrew ; Chowdhury, Shimul ; Klee, Eric W. ; Mahamdallie, Shazia ; Cleveland, Megan H. ; Vallone, Peter M. ; Ding, Yan ; Seal, Sheila ; DeSilva, Wasanthi ; Tomson, Farol L. ; Huang, Catherine ; Garlick, Russell K. ; Rahman, Nazneen ; Salit, Marc ; Kingsmore, Stephen F. ; Ferber, Matthew J. ; Aradhya, Swaroop ; Nussbaum, Robert L.

作者单位： Invitae ^[1] NIST ^[2] Lab Med & Pathol,Univ Washington ^[3] Peter MacCallum Canc Ctr ^[4] Rady Childrens Inst Genom Med ^[5] Mayo Clin ^[6] Inst Canc Res ^[7] SeraCare Life Sci ^[8]

关键词 GENERATION STANDARDS GENOMICS RECOMMENDATION ASSOCIATION GUIDELINES BREAST

发布时间 2022-06-23

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交

浏览0

相似文献

中文期刊
外文期刊
学位论文
会议论文

参考文献：
指定格式：	NoteExpress EndNote RefWorks NoteFirst

法律状态公告日	法律状态	法律状态信息

检索历史清除

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

相似文献

同项目论文

相关期刊

检索历史 清除

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

相似文献

同项目论文

相关期刊

检索历史清除