dc.contributor.author | Nakken, Sigve | en_US |
dc.contributor.author | Fournous, Ghislain | en_US |
dc.contributor.author | Vodak, Daniel | en_US |
dc.contributor.author | Aasheim, Lars Birger | en_US |
dc.contributor.author | Myklebost, Ola | en_US |
dc.contributor.author | Hovig, Eivind | en_US |
dc.date.accessioned | 2019-05-29T07:24:48Z | |
dc.date.available | 2019-05-29T07:24:48Z | |
dc.date.issued | 2018-05 | |
dc.Published | Nakken S, Fournous G, Vodak D, Aasheim LB, Myklebost O, Hovig E. Personal Cancer Genome Reporter: Variant interpretation report for precision oncology. Bioinformatics. 2018;34(10):1778-1780 | eng |
dc.identifier.issn | 1367-4811 | |
dc.identifier.issn | 1367-4803 | |
dc.identifier.uri | https://hdl.handle.net/1956/19786 | |
dc.description.abstract | Individual tumor genomes pose a major challenge for clinical interpretation due to their unique sets of acquired mutations. There is a general scarcity of tools that can (i) systematically interrogate cancer genomes in the context of diagnostic, prognostic, and therapeutic biomarkers, (ii) prioritize and highlight the most important findings and (iii) present the results in a format accessible to clinical experts. We have developed a stand-alone, open-source software package for somatic variant annotation that integrates a comprehensive set of knowledge resources related to tumor biology and therapeutic biomarkers, both at the gene and variant level. Our application generates a tiered report that will aid the interpretation of individual cancer genomes in a clinical setting. | en_US |
dc.language.iso | eng | eng |
dc.publisher | Oxford University Press | eng |
dc.rights | Attribution CC BY | eng |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | eng |
dc.title | Personal Cancer Genome Reporter: Variant interpretation report for precision oncology | en_US |
dc.type | Peer reviewed | |
dc.type | Journal article | |
dc.date.updated | 2019-01-23T12:44:23Z | |
dc.description.version | publishedVersion | en_US |
dc.rights.holder | Copyright 2017 The Author(s) | |
dc.identifier.doi | https://doi.org/10.1093/bioinformatics/btx817 | |
dc.identifier.cristin | 1593415 | |
dc.source.journal | Bioinformatics | |
dc.relation.project | Norges forskningsråd: 218241 | |
dc.relation.project | Norges forskningsråd: 221580 | |