Preprint: FA-NIVA: A Nextflow framework for automated analysis of Nanopore based long-read sequencing data for genetic analysis in Fanconi anemia
WHY IT MATTERS
This tool could help doctors diagnose Fanconi anemia more accurately and completely by detecting genetic variants that standard testing methods currently miss, potentially leading to faster diagnosis and better understanding of individual patient mutations.
Scientists created a new computer tool called FA-NIVA that helps doctors find genetic mistakes in Fanconi anemia patients more accurately. Fanconi anemia is a rare inherited blood disorder caused by mistakes in specific genes. This new tool uses advanced DNA sequencing technology that reads longer pieces of DNA, making it easier to spot all types of genetic errors, including big deletions and insertions that older methods sometimes miss.
FA-NIVA: A Nextflow framework for automated analysis of Nanopore based long-read sequencing data for genetic analysis in Fanconi anemia Authors: Neurgaonkar, P. et al. Server: medRxiv Category: genetic and genomic medicine Abstract: MotivationFanconi 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 sequencing enables a comprehensive detection of FA variants, but a unified bioinformatic analysis platform for these data is missing. ResultsWe present FA-NIVA (Fanconi anemia - Nanopore Indel and V