Collections > UNC Scholarly Publications > BioMed Central > CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing
pdf

CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing

  • Creators: Jiang, Yuchao; Wang, Rujin; Urrutia, Eugene; Anastopoulos, Ioannis N; Nathanson, Katherine L; Zhang, Nancy R
  • Collection: BioMed Central
  • File Type: pdf
  • | Filesize: 4.9 MB
  • Date Deposited: 2018-12-01
  • Date Created: 2018-11-26

Path:  Collections > UNC Scholarly Publications > BioMed Central > CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing

Abstract High-throughput DNA sequencing enables detection of copy number variations (CNVs) on the genome-wide scale with finer resolution compared to array-based methods but suffers from biases and artifacts that lead to false discoveries and low sensitivity. We describe CODEX2, as a statistical framework for full-spectrum CNV profiling that is sensitive for variants with both common and rare population frequencies and that is applicable to study designs with and without negative control samples. We demonstrate and evaluate CODEX2 on whole-exome and targeted sequencing data, where biases are the most prominent. CODEX2 outperforms existing methods and, in particular, significantly improves sensitivity for common CNVs.

Access by request

To access the contents of this item you will need to log in or request access.