New Tool Speeds Up Genetic Disease Detection in Clinical Settings
Researchers have released Nallo, an open-source software pipeline that streamlines analysis of long-read DNA sequencing data—a technology increasingly used to diagnose rare genetic diseases. The tool automates what previously required significant manual work, potentially accelerating diagnoses and reducing costs for hospitals and diagnostic labs adopting advanced sequencing technologies.
Originaltitel: Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis
Abstract Motivation 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. Results 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. Availability and implementation Nallo is available from GitHub: https://github.com/genomic-medicine-sweden/nallo