Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping

ABSTRACT Myelodysplastic neoplasia with complex karyotype (CK‐MDS) poses significant clinical challenges and is associated with poor survival. Detection of structural variants (SVs) is crucial for diagnosis, prognostication, and treatment decision‐making in MDS. However, the current standard‐of‐care...

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Veröffentlicht in:	Genes chromosomes & cancer 2025-01, Vol.64 (1), p.e70024-n/a
Hauptverfasser:	Valkama, Andriana, Vorimo, Sandra, Tervasmäki, Anna, Räsänen, Hannele, Savolainen, Eeva‐Riitta, Pylkäs, Katri, Mantere, Tuomo
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Aged, 80 and over Chromosome 8 Chromosome Aberrations Chromosome Mapping Chromosomes complex karyotype Cytogenetics Decision making Female fusion genes Gene mapping Genomes Genomic analysis Genomic Structural Variation Humans Karyotype Karyotypes Karyotyping Male Middle Aged myelodysplastic neoplasia Myelodysplastic Syndromes - genetics Myelodysplastic Syndromes - pathology optical genome mapping p53 Protein structural variants Transcriptomes transcriptomics
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