github.com/nf-core/longraredisease

Zenodo (CERN European Organization for Nuclear Research) 2026 Open access

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Authors: Nour Mahfel
DOI: 10.5281/zenodo.18989898
Cited by: 0

Abstract

A Nextflow pipeline for rare disease diagnostics from Oxford Nanopore long-read sequencing data. Includes SV, SNV, CNV, and methylation profiling.

Fields of Study & Subjects

Genomics and Rare Diseases Genomics and Phylogenetic Studies Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Zenodo (CERN European Organization for Nuclear Research)
Publication date
12 March 2026
Language
EN