HTSlib: C library for reading/writing high-throughput sequencing data

Bonfield, J. K., Marshall, J. , Danecek, P., Li, H., Ohan, V., Whitwham, A., Keane, T. and Davies, R. M. (2021) HTSlib: C library for reading/writing high-throughput sequencing data. GigaScience, 10(2), giab007. (doi: 10.1093/gigascience/giab007) (PMID:33594436) (PMCID:PMC7931820)

Abstract

Background: Since the original publication of the VCF and SAM formats, an explosion of software tools have been created to process these data files. To facilitate this a library was produced out of the original SAMtools implementation, with a focus on performance and robustness. The file formats themselves have become international standards under the jurisdiction of the Global Alliance for Genomics and Health. Findings: We present a software library for providing programmatic access to sequencing alignment and variant formats. It was born out of the widely used SAMtools and BCFtools applications. Considerable improvements have been made to the original code plus many new features including newer access protocols, the addition of the CRAM file format, better indexing and iterators, and better use of threading. Conclusion: Since the original Samtools release, performance has been considerably improved, with a BAM read-write loop running 5 times faster and BAM to SAM conversion 13 times faster (both using 16 threads, compared to Samtools 0.1.19). Widespread adoption has seen HTSlib downloaded >1 million times from GitHub and conda. The C library has been used directly by an estimated 900 GitHub projects and has been incorporated into Perl, Python, Rust, and R, significantly expanding the number of uses via other languages. HTSlib is open source and is freely available from htslib.org under MIT/BSD license.

• Item Type: Articles
• Additional Information: This work was supported by the Wellcome Trust grant (206194).
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Marshall, Mr John
• Authors: Bonfield, J. K., Marshall, J., Danecek, P., Li, H., Ohan, V., Whitwham, A., Keane, T., and Davies, R. M.
• College/School: College of Medical Veterinary and Life Sciences > School of Cancer Sciences
• Journal Name: GigaScience
• Publisher: Oxford University Press
• ISSN: 2047-217X
• ISSN (Online): 2047-217X
• Published Online: 16 February 2021
• Copyright Holders: Copyright © 2021 The Authors
• First Published: First published in GigaScience 10(2): giab007
• Publisher Policy: Reproduced under a Creative Commons License