Software-assisted manual review of clinical next-generation sequencing data An alternative to routine Sanger sequencing confirmation with equivalent results in > 15,000 germline DNA screens

Clinical genomic tests increasingly utilize a next-generation sequencing (NGS) platform due in part to the high fidelity of variant calls, yet rare errors are still possible. In germline DNA screening, failure to correct such errors could have serious consequences for patients, who may follow an unwarranted screening or surgical-management path. It has been suggested that routine orthogonal confirmation via Sanger sequencing is required to verify NGS results, especially low-confidence positives with depressed allele fraction (

Source: Journal of Molecular Diagnostics - December 4, 2018 Category: Pathology Authors: Dale Muzzey, Shera Kash, Jillian I. Johnson, Laura M. Melroy, Piotr Kaleta, Kelly A. Pierce, Kaylene Ready, Hyunseok P. Kang, Kevin R. Haas Tags: Regular Article Source Type: research