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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....
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
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| 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 |