A machine-readable specification for genomics assays

Bioinformatics. 2024 Mar 29;40(4):btae168. doi: 10.1093/bioinformatics/btae168.

Abstract

Motivation: Understanding the structure of sequenced fragments from genomics libraries is essential for accurate read preprocessing. Currently, different assays and sequencing technologies require custom scripts and programs that do not leverage the common structure of sequence elements present in genomics libraries.

Results: We present seqspec, a machine-readable specification for libraries produced by genomics assays that facilitates standardization of preprocessing and enables tracking and comparison of genomics assays.

Availability and implementation: The specification and associated seqspec command line tool is available at https://www.doi.org/10.5281/zenodo.10213865.

MeSH terms

  • Genomics*
  • Software*