Characterization of background noise in capture-based targeted sequencing data.

ABSTRACT:

Background

Targeted deep sequencing is increasingly used to detect low-allelic fraction variants; it is therefore essential that errors that constitute baseline noise and impose a practical limit on detection are characterized. In the present study, we systematically evaluate the extent to which errors are incurred during specific steps of the capture-based targeted sequencing process.

Results

We removed most sequencing artifacts by filtering out low-quality bases and then analyze the remaining background noise. By recognizing that plasma DNA is naturally fragmented to be of a size comparable to that of mono-nucleosomal DNA, we were able to identify and characterize errors that are specifically associated with acoustic shearing. Two-thirds of C:G > A:T errors and one quarter

SUBMITTER: Park G 

PROVIDER: S-EPMC5521083 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature