Software-assisted manual review of clinical NGS data:an alternative to routine Sanger sequencing confirmationwith equivalent results in >15,000 hereditary cancer screens
Dale Muzzey, Shera F. Kash, Jillian I. Johnson, Laura M. Melroy, Piotr Kaleta, Kelly A. Pierce, Kaylene J. Ready, Hyunseok Peter Kang, Kevin R. Haas
The paper demonstrates that software-assisted manual review of NGS data achieves equivalent accuracy to Sanger sequencing in confirming variant calls for hereditary cancer screening.
bioRxiv · Sep 23, 2018 · PreprintGenomics