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

Genetics in Medicine, Published online: 18 May 2021; doi:10.1038/s41436-021-01187-wOne 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

Source: Genetics in Medicine - May 18, 2021 Category: Genetics & Stem Cells Authors: 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 Wasant Source Type: research