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…·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.