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Table 1 Comparison of somatic copy number detection tools from whole exome sequencing data

From: SynthEx: a synthetic-normal-based DNA sequencing tool for copy number alteration detection and tumor heterogeneity profiling

 

ADTEX

Control-FREEC

SynthEx

VarScan2

Programming language

R, Python

C++

R, Python

Java, Perl, R

Sequencing type

WES

WES/WGS

WES/WGS

WES

Input files

BAM, coverage

SAM/BAM, pileup

BAM

BAM, pileup

Matched normal required

Yes

No

No

Yes

Window/binning

Exons

Non-overlapping windows in exons

Non-overlapping windows of genome

Non-overlapping windows in exons

Bias correction

No

Optional

NA

No

Purity estimate

No

Optional

YES with variant calling

No

Segmentation method

CBS

Lasso

CBS

CBS

Segmentation annotation

Yes

Yes

Yes

Yes

Graphics provided

Yes

Yes

Yes

Yes

  1. CBS circular binary segmentation