MERIT reveals the impact of genomic context on sequencing error rate in ultra-deep applications.

ABSTRACT:

Background

Rapid progress in high-throughput sequencing (HTS) and the development of novel library preparation methods have improved the sensitivity of detecting mutations in heterogeneous samples, specifically in high-depth (> 500×) clinical applications. However, HTS methods are bounded by their technical and theoretical limitations and sequencing errors cannot be completely eliminated. Comprehensive quantification of the background noise can highlight both the efficiency and the limitations of any HTS methodology, and help differentiate true mutations at low abundance from artifacts.

Results

We introduce MERIT (Mutation Error Rate Inference Toolkit), designed for in-depth quantification of erroneous substitutions and small insertions and deletions. MERIT incorporates an a

SUBMITTER: Hadigol M 

PROVIDER: S-EPMC5994075 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature