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Identification of complex and cryptic chromosomal rearrangements by optical genome mapping

BACKGROUND: Optical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex chromosomal rearrangements (CCRs) and cryptic translocations are rare events that are considered difficult to detect by routine cytogenetic methods....

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Detalles Bibliográficos
Autores principales: Shi, Shanshan, Huang, Peizhi, Yan, Ruiling, Li, Ruiman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10134526/
https://www.ncbi.nlm.nih.gov/pubmed/37101225
http://dx.doi.org/10.1186/s13039-023-00636-2