Related Experiment Video
Updated: Jun 29, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A machine-readable specification for genomics assays
Ali Sina Booeshaghi1, Xi Chen2, Lior Pachter3,4
1Department of Bioengineering, University of California, Berkeley, CA, 94720, United States.
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.
Related Concept Videos
Genome Annotation and Assembly
RNA-seq
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
DNA Microarrays

