GenomicsbioRxivPreprint
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…·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.
2 citations