@article{851841, author = {Stephen Lincoln and Tina Hambuch and Justin Zook and Sara Bristow and Kathryn Hatchell and Rebecca Truty and Michael Kennemer and Brian Shirts and Andrew Fellowes and Shimul Chowdhury and Eric Klee and Shazia Mahamdallie and Megan Cleveland and Peter Vallone and Yan Ding and Sheila Seal and Wasanthi DeSilva and Farol Tomson and Catherine Huang and Russell Garlick and Nazneen Rahman and Marc Salit and Stephen Kingsmore and Matthew Ferber and Swaroop Aradhya and Robert Nussbaum}, title = {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}, year = {2021}, month = {2021-05-18 04:05:00}, publisher = {Genetics in Medicine}, url = {https://tsapps.nist.gov/publication/get_pdf.cfm?pub_id=923823}, doi = {https://doi.org/10.1038/s41436-021-01187-w}, language = {en}, }