Ximmer: a system for improving accuracy and consistency of CNV calling from exome data.

ABSTRACT:

Background

While exome and targeted next-generation DNA sequencing are primarily used for detecting single nucleotide changes and small indels, detection of copy number variants (CNVs) can provide highly valuable additional information from the data. Although there are dozens of exome CNV detection methods available, these are often difficult to use, and accuracy varies unpredictably between and within datasets.

Findings

We present Ximmer, a tool that supports an end-to-end process for evaluating, tuning, and running analysis methods for detection of CNVs in germline samples. Ximmer includes a simulation framework, implementations of several commonly used CNV detection methods, and a visualization and curation tool that together enable interactive exploration and quality con

SUBMITTER: Sadedin SP 

PROVIDER: S-EPMC6177737 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature