A platform for oncogenomic reporting and interpretation

oleh: Caralyn Reisle, Laura M. Williamson, Erin Pleasance, Anna Davies, Brayden Pellegrini, Dustin W. Bleile, Karen L. Mungall, Eric Chuah, Martin R. Jones, Yussanne Ma, Eleanor Lewis, Isaac Beckie, David Pham, Raphael Matiello Pletz, Amir Muhammadzadeh, Brandon M. Pierce, Jacky Li, Ross Stevenson, Hansen Wong, Lance Bailey, Abbey Reisle, Matthew Douglas, Melika Bonakdar, Jessica M. T. Nelson, Cameron J. Grisdale, Martin Krzywinski, Ana Fisic, Teresa Mitchell, Daniel J. Renouf, Stephen Yip, Janessa Laskin, Marco A. Marra, Steven J. M. Jones

Format: Article
Diterbitkan: Nature Portfolio 2022-02-01

Deskripsi

The interpretation of somatic variants in cancer is challenging due to the scale and complexity of sequencing data. Here, the authors present PORI, an open-source framework for interpreting somatic variants in cancer using graph knowledge base tools, automated reporting, and manual curation.