Quality threshold evaluation of Sanger confirmation for results of whole exome sequencing in clinically diagnostic setting
Go Hun Seo, Hyeri Kim, Minjeong Kye, Jung‐Young Park, Dong-gun Won, Jungsul Lee
The paper evaluates a quality threshold for whole exome sequencing variants to determine when Sanger sequencing confirmation is unnecessary, finding high accuracy with specific quality score and allele fraction thresholds.
bioRxiv · Dec 8, 2020 · PreprintGenetics