Article

FA-NIVA: A Nextflow framework for automated analysis of Nanopore based long-read sequencing data for genetic analysis in Fanconi anemia

2026-03-04

Abstract excerpt

<h4>Motivation</h4> Fanconi anemia (FA) is a rare disease mainly caused by biallelic pathogenic variants, including structural variants such as large deletions and insertions in FA genes. Currently, variant detection is based on short-read sequencing and probe-based approaches. However, determining the exact genomic breakpoint or achieving allelic discrimination remains challenging. Nanopore-based long-read seque...

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Literature Corpus work: d98f70fb-6043-5be8-94e7-f2a7ff9808f1
DOI: 10.64898/2026.02.27.26346867

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