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A machine-readable specification for genomics assays

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 libr...

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Detalles Bibliográficos
Autores principales: Booeshaghi, A. Sina, Chen, Xi, Pachter, Lior
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055303/
https://www.ncbi.nlm.nih.gov/pubmed/36993635
http://dx.doi.org/10.1101/2023.03.17.533215
Descripción
Sumario: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. 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. The specification and associated seqspec command line tool is available at https://github.com/IGVF/seqspec.