1. Inicio
  2. Publicaciones
  3. Copy-Neutral Loss of Heterozygosity in Myelofibrosis

Copy-Neutral Loss of Heterozygosity in Myelofibrosis

Fecha de publicación:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Garrote, M.
  • Carreño-Tarragona, G.
  • Salido, M.
  • Pastor-Galán, I.
  • Stuckey, R.
  • Uresandi-Iruin, N.
  • Villamón, E.
  • Espinet, B.
  • Álvarez-Larrán, A.
  • Hernández-Boluda, J.C.

Grupos

Abstract

Key Points • The presence of copy-neutral loss of heterozygosity (CN-LOH) in patients with myelofibrosis can be clinically important and provide prognostic information. • Optical genome mapping (OGM) can identify CN-LOH, but real-world performance data are limited. • This study compared two OGM analysis tools—Bionano Access [using both de novo assembly (DN) and guided assembly (GA) pipelines] and Variant Intelligence Applications (VIA)—against single-nucleotide polymorphism (SNP) arrays for CN-LOH detection. • Concordance with SNP arrays was highest with VIA (90%). GA and DN showed lower overall concordance (45% and 37%, respectively), but improved markedly for events =25 Mb (70% and 61%, respectively). © 2026 Association for Molecular Pathology and American Society for Investigative Pathology.

Datos de la publicación

ISSN/ISSNe:
1525-1578, 1943-7811

JOURNAL OF MOLECULAR DIAGNOSTICS  ELSEVIER SCIENCE INC

Tipo:
Article
Páginas:
366-376
PubMed:
41621706
Enlace a otro recurso:
www.scopus.com
Factor de Impacto:
1,678 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 1

Documentos

  • No hay documentos

Métricas

Filiaciones mostrar / ocultar

Keywords

  • Aged; Chromosome Mapping; DNA Copy Number Variations; Female; Genome, Human; Humans; Janus Kinase 2; Loss of Heterozygosity; Male; Middle Aged; Polymorphism, Single Nucleotide; Primary Myelofibrosis; Janus kinase 2; Janus kinase 2; adult; aged; Article; data analysis; female; heterozygosity loss; human; major clinical study; male; multicenter study; myelofibrosis; single nucleotide polymorphism; software; Variant Intelligence Applications; chromosomal mapping; clinical trial; copy number variation; diagnosis; genetics; human genome; middle aged; myeloid metaplasia; procedures; single nucleotide polymorphism

Cita

Compartir