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


Date: 6th July 2020 | Source: Genetics in Medicine

Authors: My Linh Thibodeau, Kieran O’Neill, Katherine Dixon, Caralyn Reisle, Karen L. Mungall, Martin Krzywinski, Yaoqing Shen, Howard J. Lim, Dean Cheng, Kane Tse, Tina Wong, Eric Chuah, Alexandra Fok, Sophie Sun, Daniel Renouf, David F. Schaeffer, Carol Cremin, Stephen Chia, Sean Young, Pawan Pandoh, Stephen Pleasance, Erin Pleasance, Andrew J. Mungall, Richard Moore, Stephen Yip, Aly Karsan, Janessa Laskin, Marco A. Marra, Kasmintan A. Schrader, Steven J. M. Jones.

Read the full text Read the SV white paper Investigating SVs with nanopore sequencing

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