publication . Preprint . Article . Other literature type . 2017

Personal Cancer Genome Reporter: Variant Interpretation Report For Precision Oncology

Nakken, Sigve; Fournous, Ghislain; Vodák, Daniel; Aasheim, Lars Birger; Myklebost, Ola; Hovig, Eivind;
Open Access
  • Published: 01 Apr 2017
  • Publisher: Cold Spring Harbor Laboratory
  • Country: Norway
Abstract
<jats:title>Abstract</jats:title><jats:sec><jats:title>Summary</jats:title><jats:p>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 <jats:italic>i)</jats:italic> systematically interrogate cancer genomes in the context of diagnostic, prognostic, and therapeutic biomarkers, <jats:italic>ii)</jats:italic> prioritize and highlight the most important findings, and <jats:italic>iii)</jats:italic> present the results in a format accessible to clinical experts. We have developed a stand-alone, open-source software package for somatic variant annotati...
Subjects
free text keywords: Statistics and Probability, Computational Theory and Mathematics, Biochemistry, Molecular Biology, Computational Mathematics, Computer Science Applications, Applications Notes, Genome Analysis
Related Organizations

Ramos,A.H. et al. (2015) Oncotator: cancer variant annotation tool. Hum. Mutat., 36, E2423-E2429.

Ritter,D.I. et al. (2016) Somatic cancer variant curation and harmonization through consensus minimum variant level data. Genome Med., 8, 117.

Rocco,P. et al. (2017) OncoScore: a novel, Internet-based tool to assess the oncogenic potential of genes. Sci. Rep., 7, 46290.

Rosenthal,R. et al. (2016) deconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution. Genome Biol., 17, 31.

Secrier,M. et al. (2016) Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance. Nat. Genet., 48, 1131-1141. [OpenAIRE]

Wagner,A.H. et al. (2016) DGIdb 2.0: mining clinically relevant drug-gene interactions. Nucleic Acids Res., 44, D1036-D1044.

Wang,K. et al. (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res., 38, e164.

Abstract
<jats:title>Abstract</jats:title><jats:sec><jats:title>Summary</jats:title><jats:p>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 <jats:italic>i)</jats:italic> systematically interrogate cancer genomes in the context of diagnostic, prognostic, and therapeutic biomarkers, <jats:italic>ii)</jats:italic> prioritize and highlight the most important findings, and <jats:italic>iii)</jats:italic> present the results in a format accessible to clinical experts. We have developed a stand-alone, open-source software package for somatic variant annotati...
Subjects
free text keywords: Statistics and Probability, Computational Theory and Mathematics, Biochemistry, Molecular Biology, Computational Mathematics, Computer Science Applications, Applications Notes, Genome Analysis
Related Organizations

Ramos,A.H. et al. (2015) Oncotator: cancer variant annotation tool. Hum. Mutat., 36, E2423-E2429.

Ritter,D.I. et al. (2016) Somatic cancer variant curation and harmonization through consensus minimum variant level data. Genome Med., 8, 117.

Rocco,P. et al. (2017) OncoScore: a novel, Internet-based tool to assess the oncogenic potential of genes. Sci. Rep., 7, 46290.

Rosenthal,R. et al. (2016) deconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution. Genome Biol., 17, 31.

Secrier,M. et al. (2016) Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance. Nat. Genet., 48, 1131-1141. [OpenAIRE]

Wagner,A.H. et al. (2016) DGIdb 2.0: mining clinically relevant drug-gene interactions. Nucleic Acids Res., 44, D1036-D1044.

Wang,K. et al. (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res., 38, e164.

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