ERASE-Seq: Leveraging replicate measurements to enhance ultralow frequency variant detection in NGS data.

ABSTRACT: The accurate detection of ultralow allele frequency variants in DNA samples is of interest in both research and medical settings, particularly in liquid biopsies where cancer mutational status is monitored from circulating DNA. Next-generation sequencing (NGS) technologies employing molecular barcoding have shown promise but significant sensitivity and specificity improvements are still needed to detect mutations in a majority of patients before the metastatic stage. To address this we present analytical validation data for ERASE-Seq (Elimination of Recurrent Artifacts and Stochastic Errors), a method for accurate and sensitive detection of ultralow frequency DNA variants in NGS data. ERASE-Seq differs from previous methods by creating a robust statistical framework to utilize technical re

SUBMITTER: Kamps-Hughes N 

PROVIDER: S-EPMC5890993 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature