Skip to main content

Table 1 Selected tools for the performance analysis of CNV detection tools using WES data

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

Tool name

ADTEx

CONTRA

cn.MOPS

ExomeCNV

VarScan 2

Chara- Cteristics

Control set required

Yes

Yes

No

Yes

No

Prog. Language

Python, S/R

Python, R

R

R

Java

Input format

BAM, BED

BAM, SAM, BED

BAM, Read count matrices

BAM, Pileup, GTF

BAM, Pileup

Segmentation Algorithm

HMM

CBS

CBS

CBS

NAa

OS

GNU, Linux

Linux, Mac OS

Linux, Mac OS, windows

Linux, Mac OS, windows

Linux, Mac OS, windows

Methodology characteristic

DWTc for de-noising, use BAFd

Base-level log-ratio

Bayesian approach for de-noising

Statistical test for analyzing BAF data

CMDSb for generating read counts

Year

2014

2012

2012

2011

2012

URL

http://adtex.sourceforge.net

https://sourceforge.net/projects/contra-cnv/

http://www.bioinf.jku.at/software/cnmops/cnmops.html

https://secure.genome.ucla.edu/index.php/ExomeCNV_User_Guide

http://varscan.sourceforge.net/

  1. aSegmentation is not imbedded in the tool. CBS is recommended for segmentation
  2. bCorrelation Matrix Diagonal Segmentation
  3. cDiscrete wavelet transform
  4. dB allele frequencies