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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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發表在: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.
格式: Artigo
語言:Inglês
出版: Nature Publishing Group US 2020
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在線閱讀: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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