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References

The following software packages are used in this pipeline:

Software

Website

Citation

AWS CLI

https://github.com/aws/aws-cli

BCFtools

https://github.com/samtools/bcftools

doi: 10.1093/gigascience/giab008

BWA

https://github.com/lh3/bwa

doi: 10.48550/arXiv.1303.3997

conda

https://docs.conda.io/en/latest/

fastp

https://github.com/OpenGene/fastp

doi: 10.1093/bioinformatics/bty560

FastQC

https://www.bioinformatics.babraham.ac.uk/projects/fastqc/

GATK4

https://github.com/broadinstitute/gatk

matplotlib

https://matplotlib.org/

MultiQC

https://github.com/ewels/MultiQC

doi: 10.1093/bioinformatics/btw354

pandas

https://pandas.pydata.org/

Python

https://www.python.org/

R

https://www.r-project.org/

R Core Team. R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing, Vienna, Austria, (2022).

SAMtools

https://github.com/samtools/samtools

doi: 10.1093/gigascience/giab008

Snakemake

https://github.com/snakemake/snakemake

doi: 10.12688/f1000research.29032.1

Somalier

https://github.com/brentp/somalier

doi: 10.1186/s13073-020-00761-2

Tabix

https://github.com/samtools/htslib

doi: 10.1093/gigascience/giab007

VerifyBamID

https://github.com/statgen/verifyBamI

doi: 10.1016/j.ajhg.2012.09.004

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© Copyright 2022, B. Ballew, E. Joshi, C. Palmer, 54gene. Revision f457a1c7.

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