Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing

Germline structural variants (SVs) are challenging to resolve by conventional genetic testing assays. Long-read sequencing has improved the global characterization of SVs, but its sensitivity at cancer susceptibility loci has not been reported. Nanopore long-read genome sequencing was performed for...

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Detalles Bibliográficos
Autores principales: Dixon, Katherine, Shen, Yaoqing, O’Neill, Kieran, Mungall, Karen L., Chan, Simon, Bilobram, Steve, Zhang, Wei, Bezeau, Marjorie, Sharma, Alshanee, Fok, Alexandra, Mungall, Andrew J., Moore, Richard, Bosdet, Ian, Thibodeau, My Linh, Sun, Sophie, Yip, Stephen, Schrader, Kasmintan A., Jones, Steven J. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172360/
https://www.ncbi.nlm.nih.gov/pubmed/36797466
http://dx.doi.org/10.1038/s41431-023-01284-1

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