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

Stephen E. Lincoln, Tina Hambuch, Justin M. Zook, Sara L. Bristow, Kathryn Hatchell, Rebecca Truty, Michael Kennemer, Brian H. Shirts, Andrew Fellowes, Shimul Chowdhury, Eric W. Klee, Shazia Mahamdallie, Megan H. Cleveland, Peter M. Vallone, Yan Ding, Sheila Seal, Wasanthi DeSilva, Farol L. Tomson, Catherine Huang, Russell K. GarlickNazneen Rahman, Marc Salit, Stephen F. Kingsmore, Matthew J. Ferber, Swaroop Aradhya, Robert L. Nussbaum

Research output: Contribution to journal › Article › peer-review

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