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Table 9 List of open source tools used in our study of the alternatives to the LifeScope pipeline

From: Challenges in exome analysis by LifeScope and its alternative computational pipelines

Analysis category

Tool

Web reference

Convert XSQ to color-space fastq

XSQtools solid2fastq

Life Technologies website Bfast package

Alignment to the reference genome

Maq v.0.7.1

http://maq.sourceforge.net/

Default parameters, -n 3

Shrimp 2.2.3

http://compbio.cs.toronto.edu/shrimp/

Default parameters, -h 85 –strata -o 3

Bfast 0.7.0

http://sourceforge.net/projects/bfast/

Default parameters

Preprocessing

Picard 1.111

http://picard.sourceforge.net/

Samtools 0.1.18

http://samtools.sourceforge.net/

Variant calling

GATK v.3.1

http://www.broadinstitute.org/gatk/

Steps and parameters in Table 7

Variant summaries

Vcftools 0.1.12

http://vcftools.sourceforge.net/

Bcftools v.0.2.0

http://samtools.github.io/bcftools/

Variant annotation

Annovar

http://www.openbioinformatics.org/annovar/