Article
Copy-Neutral Loss of Heterozygosity in Myelofibrosis: Parallel Evaluation with Optical Genome Mapping and Single-Nucleotide Polymorphism Arrays.
The Journal of molecular diagnostics : JMD - 1 Apr 2026
Díaz-González Álvaro, Mora Elvira, Garrote Marta, Carreño-Tarragona Gonzalo, Salido Marta, Pastor-Galán Irene, Stuckey Ruth, Uresandi-Iruin Nerea, Avetisyan Gayane, Orellana Carmen, Roselló Mónica, García-Ruiz Cristian, Torres-Hernández Neus, Martínez-Campuzano David, Berenguer-Rubio Alejandro, Liquori Alessandro, Villamón Eva, Espinet Blanca, Cervera José, Rubia Javier de la, Álvarez-Larrán Alberto, Hernández-Boluda Juan Carlos, Such Esperanza
Abstract excerpt
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, the...
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