Workflow

BALSAMIC ( version = 8.2.9 ) uses myriad of tools and softwares to analyze fastq files. This section covers why each one is included: usage and parameters, and relevant external links.

ascatNgs

Source code:

GitHub https://github.com/cancerit/ascatNgs

Article:

PNAS https://www.pnas.org/doi/full/10.1073/pnas.1009843107/

Version:

4.5.0

bcftools

Source code:

GitHub https://github.com/samtools/bcftools

Article:

Bioinformatics https://pubmed.ncbi.nlm.nih.gov/21903627/

Version:

>1.9

bedtools

Source code:

GitHub https://github.com/arq5x/bedtools2

Article:

Bioinformatics https://pubmed.ncbi.nlm.nih.gov/20110278/

Version:

2.30.0

bwa

Source code:

GitHub https://github.com/lh3/bwa

Article:

Bioinformatics https://arxiv.org/abs/1303.3997

Version:

0.7.15

cnvkit

Source code:

GitHub https://github.com/etal/cnvkit

Article:

PLOS Computational Biology http://dx.doi.org/10.1371/journal.pcbi.1004873

Version:

0.9.4

csvkit

Source code:

GitHub https://github.com/wireservice/csvkit

Article:

-

Version:

1.0.4

delly

Source code:

GitHub https://github.com/dellytools/delly

Article:

Bioinformatics https://academic.oup.com/bioinformatics/article/28/18/i333/245403

Version:

0.8.7

ensembl-vep

Source code:

GitHub https://github.com/Ensembl/ensembl-vep

Article:

Genome Biology https://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-0974-4

Version:

100.2

fastp

Source code:

GitHub https://github.com/OpenGene/fastp

Article:

Bioinformatics https://doi.org/10.1093/bioinformatics/bty560

Version:

0.20.1

fastqc

Source code:

GitHub https://github.com/s-andrews/FastQC

Article:

Babraham http://www.bioinformatics.babraham.ac.uk/projects/fastqc/

Version:

0.11.9

gatk

Source code:

Github https://github.com/broadinstitute/gatk

Article:

Current Protocols in Bioinformatics https://pubmed.ncbi.nlm.nih.gov/25431634/

Version:

3.8

manta

Source code:

GitHub https://github.com/Illumina/manta

Article:

Bioinformatics https://doi.org/10.1093/bioinformatics/btv710

Version:

1.6.0

multiqc

Source code:

GitHub https://github.com/ewels/MultiQC

Article:

Bioinformatics http://dx.doi.org/10.1093/bioinformatics/btw354

Version:

1.11

mosdepth

Source code:

GitHub https://github.com/brentp/mosdepth

Article:

Bioinformatics https://academic.oup.com/bioinformatics/article/34/5/867/4583630?login=true

Version:

0.2.9

picard

Source code:

GitHub https://github.com/broadinstitute/picard

Article:

-

Version:

2.25.0

sambamba

Source code:

GitHub https://github.com/biod/sambamba

Article:

Bioinformatics https://pubmed.ncbi.nlm.nih.gov/25697820/

Version:

0.6.6

samtools

Source code:

GitHub https://github.com/samtools/samtools

Article:

Bioinformatics https://pubmed.ncbi.nlm.nih.gov/19505943/

Version:

1.12

sentieon-tools

Source code:

Commercial Tool https://www.sentieon.com/

Article:

Bioinformatics https://www.biorxiv.org/content/10.1101/115717v2

Version:

202010.02

tabix

Source code:

GitHub https://github.com/samtools/tabix

Article:

Bioinformatics https://academic.oup.com/bioinformatics/article/27/5/718/262743

Version:

0.2.6

vardict

Source code:

GitHub https://github.com/AstraZeneca-NGS/VarDict

Article:

Nucleic Acid Research https://pubmed.ncbi.nlm.nih.gov/27060149/

Version:

2019.06.04

vcfanno

Source code:

GitHub https://github.com/brentp/vcfanno

Article:

Genome Biology https://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-0973-5/

Version:

0.3.3

vcf2cytosure

Source code:

GitHub https://github.com/NBISweden/vcf2cytosure

Article:

-

Version:

0.7.1