Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis.
Where this comes from
- Record sourced from PubMed, PMID 41712762.
- Also identified by DOI 10.1093/bioinformatics/btag086 and PMC identifier 12988770.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Long-read sequencing (LRS) is increasingly used for human medical research and clinical diagnostics due to its capacity to generate complete genome information. However, there is a lack of robust and easy-to-use pipelines for comprehensive LRS data analysis. Here we present Nallo, a Nextflow pipeline for analysis of PacBio and Oxford Nanopore data, with additional support for rare disease research projects. The pipeline detects a wide range of genetic variants, performs genome assembly, and reports CpG methylation. It also enables annotation and ranking of variants based on their predicted functional consequences. Nallo is available from GitHub: https://github.com/genomic-medicine-sweden/nallo.
Medical subject headings
- Genome, Human
- Software
- High-Throughput Nucleotide Sequencing
- Genomics
- Sequence Analysis, DNA