FERMI: A Novel Method for Sensitive Detection of Rare Mutations in Somatic Tissue.

ABSTRACT: With growing interest in monitoring mutational processes in normal tissues, tumor heterogeneity, and cancer evolution under therapy, the ability to accurately and economically detect ultra-rare mutations is becoming increasingly important. However, this capability has often been compromised by significant sequencing, PCR and DNA preparation error rates. Here, we describe FERMI (Fast Extremely Rare Mutation Identification) - a novel method designed to eliminate the majority of these sequencing and library-preparation errors in order to significantly improve rare somatic mutation detection. This method leverages barcoded targeting probes to capture and sequence DNA of interest with single copy resolution. The variant calls from the barcoded sequencing data are then further filtered in a posi

SUBMITTER: Liggett LA 

PROVIDER: S-EPMC6723130 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature