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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Bibliografiska uppgifter
I publikationen:Genet Med
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group US 2020
Ämnen:
Brief Communication
Länkar: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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