FA-NIVA: A Nextflow framework for automated analysis of Nanopore based long-read sequencing data for genetic analysis in Fanconi anemia
Priya S. Neurgaonkar, Michelle Dierolf, Luke O’Gorman, Christian W. Remmele, Judith Schaffer, Isabell Popp, Angela Borst, Simone Rost, Markus Johannes Ankenbrand, Christian Peter Kratz, Anke Katharina Bergmann, Reinhard Kalb, Jiangyan Yu
FA-NIVA provides an automated analysis framework for Nanopore long-read sequencing data to detect SNVs and SVs in Fanconi anemia genes with improved genotyping accuracy.
medRxiv · Mar 4, 2026 · PreprintGenetic & Genomic Medicine