Genome biologyBioinformaticsPeer-reviewed journal article
Automated quality control of next generation sequencing data using machine learning
Steffen AlbrechtiD, Maximilian SprangiD, Miguel Angel Andrade-NavarroiD, Jean−Fred FontaineiD
Abstract
Controlling quality of next generation sequencing (NGS) data files is a necessary but complex task. To address this problem, we statistically characterized common NGS quality features and developed a novel quality control procedure involving tree-based and deep learning classification algorithms. Predictive models, validated on internal data and external disease diagnostic datasets, are to some extent generalizable to data from unseen species. The derived statistical guidelines and predictive models represent a valuable resource for users of NGS data to better understand quality issues and perform automatic quality control. Our guidelines and software are available at the following URL: https://github.com/salbrec/seqQscorer.
- assay: whole-genome sequencing
- assay: whole-exome sequencing
- assay: long-read sequencing
- research focus: benchmarking
- approach: machine learning (classical)
- Citations
- 30
- FWCI
- 2.27
- Field percentile
- top 10%
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- ForestQC: quality control on genetic variants from next-generation sequencing data using random forest
Jiajin Li, Brandon Jew, … Jae Hoon Sul·PLoS Computational BiologyPeer-reviewed·Dec 18, 2019
- AlmostSignificant: Simplifying quality control of high-throughput sequencing data.
Joseph Ward, Christian Cole, … Geoffrey Barton·bioRxiv·May 16, 2016
- Integrating the ENCODE blocklist for machine learning quality control of ChIP-seq data with seqQscorer
Steffen Albrecht, Clarissa Krämer, … Maximilian Sprang·bioRxiv·May 12, 2025
- ngsReports: An R Package for managing FastQC reports and other NGS related log files.
Christopher M. Ward, Thu‐Hien To, Stephen Pederson·BioinformaticsPeer-reviewed·Dec 12, 2019
- Know your RNA-Seq data in depth: a case study using data from early life stress in mouse
Angelica Lindlöf·bioRxiv·Jun 30, 2025
- FastqCleaner: an interactive Bioconductor application for quality-control, filtering and trimming of FASTQ files
Leandro Gabriel Roser, Fernán Agüero, Daniel Oscar Sánchez·BMC BioinformaticsPeer-reviewed·Jun 28, 2019