학술논문
A platform for oncogenomic reporting and interpretation
Document Type
article
Author
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
Source
Nature Communications, Vol 13, Iss 1, Pp 1-11 (2022)
Subject
Language
English
ISSN
2041-1723
Abstract
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.