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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Veröffentlicht in:Genet Med
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group US 2020
Schlagworte:
Brief Communication
Online Zugang: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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