Increased yields of duplex sequencing data by a series of quality control tools.

ABSTRACT: Duplex sequencing is currently the most reliable method to identify ultra-low frequency DNA variants by grouping sequence reads derived from the same DNA molecule into families with information on the forward and reverse strand. However, only a small proportion of reads are assembled into duplex consensus sequences (DCS), and reads with potentially valuable information are discarded at different steps of the bioinformatics pipeline, especially reads without a family. We developed a bioinformatics toolset that analyses the tag and family composition with the purpose to understand data loss and implement modifications to maximize the data output for the variant calling. Specifically, our tools show that tags contain polymerase chain reaction and sequencing errors that contribute to data loss

SUBMITTER: Povysil G 

PROVIDER: S-EPMC7872198 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature