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High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance

Chromosome banding analysis (CBA) remains the standard-of-care for structural variant (SV) assessment in MDS. Optical genome mapping (OGM) is a novel, non-sequencing-based technique for high-resolution genome-wide SV profiling (SVP). We explored the clinical value of SVP by OGM in 101 consecutive, n...

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Detalles Bibliográficos
Autores principales: Yang, Hui, Garcia-Manero, Guillermo, Sasaki, Koji, Montalban-Bravo, Guillermo, Tang, Zhenya, Wei, Yue, Kadia, Tapan, Chien, Kelly, Rush, Diana, Nguyen, Ha, Kalia, Awdesh, Nimmakayalu, Manjunath, Bueso-Ramos, Carlos, Kantarjian, Hagop, Medeiros, L. Jeffrey, Luthra, Rajyalakshmi, Kanagal-Shamanna, Rashmi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9417987/
https://www.ncbi.nlm.nih.gov/pubmed/35915143
http://dx.doi.org/10.1038/s41375-022-01652-8