Copy-Neutral Loss of Heterzygosity in Myelofibrosis: Parallel Evaluation with Optical Genome Mapping and Single-Nucleotide Polymorphism Arrays

Myelofibrosis (MF) is a hematologic malignancy with a highly heterogeneous clinical course. Copy-neutral loss of heterozygosity (CN-LOH) may contribute to disease progression by promoting mutation homozygosity. Although single-nucleotide polymorphism (SNP) arrays are the gold standard for CN-LOH detection, Optical Genome Mapping (OGM) has emerged as a promising alternative. In this multicenter study, we assessed the capability of OGM to detect CN-LOH in 78 patients with MF. OGM data were analyzed using both de novo (DN) and guided assembly pipelines (GA), followed by re-analysis of CN-LOH–positive cases with the VIA software.