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
七分之一的致病变异难以通过二代测序（NGS）检测：一项对45万患者的分析揭示了其对临床敏感性和基因检测实施的影响。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01187-w
Lincoln, Stephen E; Hambuch, Tina; Zook, Justin M; Bristow, Sara L; Hatchell, Kathryn; Truty, Rebecca; Kennemer, Michael; Shirts, Brian H; 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
