An evaluation of copy number variation detection tools for cancer using whole exome sequencing data.

ABSTRACT:

Background

Recently copy number variation (CNV) has gained considerable interest as a type of genomic/genetic variation that plays an important role in disease susceptibility. Advances in sequencing technology have created an opportunity for detecting CNVs more accurately. Recently whole exome sequencing (WES) has become primary strategy for sequencing patient samples and study their genomics aberrations. However, compared to whole genome sequencing, WES introduces more biases and noise that make CNV detection very challenging. Additionally, tumors' complexity makes the detection of cancer specific CNVs even more difficult. Although many CNV detection tools have been developed since introducing NGS data, there are few tools for somatic CNV detection for WES data in cancer.

Resul

SUBMITTER: Zare F 

PROVIDER: S-EPMC5452530 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature