Article
ERASE-Seq: Leveraging replicate measurements to enhance ultralow frequency variant detection in NGS data.
PloS one - 1 Jan 2018
Kamps-Hughes Nick, McUsic Andrew, Kurihara Laurie, Harkins Timothy T, Pal Prithwish, Ray Claire, Ionescu-Zanetti Cristian
Abstract excerpt
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...
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