Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing

PURPOSE: Structural variants (SVs) may be an underestimated cause of hereditary cancer syndromes given the current limitations of short-read next-generation sequencing. Here we investigated the utility of long-read sequencing in resolving germline SVs in cancer susceptibility genes detected through...

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Detalles Bibliográficos
Autores principales: Thibodeau, My Linh, O’Neill, Kieran, Dixon, Katherine, Reisle, Caralyn, Mungall, Karen L., Krzywinski, Martin, Shen, Yaoqing, Lim, Howard J., Cheng, Dean, Tse, Kane, Wong, Tina, Chuah, Eric, Fok, Alexandra, Sun, Sophie, Renouf, Daniel, Schaeffer, David F., Cremin, Carol, Chia, Stephen, Young, Sean, Pandoh, Pawan, Pleasance, Stephen, Pleasance, Erin, Mungall, Andrew J., Moore, Richard, Yip, Stephen, Karsan, Aly, Laskin, Janessa, Marra, Marco A., Schrader, Kasmintan A., Jones, Steven J. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7605438/
https://www.ncbi.nlm.nih.gov/pubmed/32624572
http://dx.doi.org/10.1038/s41436-020-0880-8

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