Personal Cancer Genome Reporter: variant interpretation report for precision oncology
Author(s) -
Sigve Nakken,
Ghislain Fournous,
Daniel Vodák,
Lars Birger Aasheim,
Ola Myklebost,
Eivind Hovig
Publication year - 2017
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btx817
Subject(s) - documentation , python (programming language) , annotation , computer science , genome , context (archaeology) , software , interpretation (philosophy) , source code , computational biology , data science , biology , gene , programming language , artificial intelligence , genetics , paleontology
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.
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