GigaScience · 2021 · 15.9K citations · 22 references
Life SciencesBioinformaticsBiologyGenomic Data AnalysisGenomicsSequence AnalysisDna SequencingNext-generation SequencingBioinformatic PipelinesEffect AnalysisFile Format ConversionHigh-throughput Sequencing AnalysisNext-generation Sequencing Data Analysis
SAMtools and BCFtools are widely used, open‑source tools for processing and analysing high‑throughput sequencing data, providing file format conversion, sorting, querying, statistics, variant calling, and effect analysis, and are integrated into numerous genomic pipelines. Since their first release 12 years ago, the packages have been continuously developed, adding many new features, and have been installed over one million times via Bioconda.
Abstract Background SAMtools and BCFtools are widely used programs for processing and analysing high-throughput sequencing data. They include tools for file format conversion and manipulation, sorting, querying, statistics, variant calling, and effect analysis amongst other methods. Findings The first version appeared online 12 years ago and has been maintained and further developed ever since, with many new features and improvements added over the years. The SAMtools and BCFtools packages represent a unique collection of tools that have been used in numerous other software projects and countless genomic pipelines. Conclusion Both SAMtools and BCFtools are freely available on GitHub under the permissive MIT licence, free for both non-commercial and commercial use. Both packages have been installed >1 million times via Bioconda. The source code and documentation are available from https://www.htslib.org.
22
The Sequence Alignment/Map format and SAMtools
Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text
A global reference for human genetic variation
Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text
The variant call format and VCFtools
Petr Danecek, Adam Auton, Gonçalo R. Abecasis et al. · Bioinformatics · 2011 · 17.8K citations · Full text
Twelve years of SAMtools and BCFtools
Petr Danecek, James Bonfield, Jennifer Liddle et al. · GigaScience · 2021 · 15.9K citations · Full text
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text