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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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2020
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7605438/
https://ncbi.nlm.nih.gov/pubmed/32624572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0880-8
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