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Related Concept Videos

Cancer-Critical Genes I: Proto-oncogenes01:33

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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Related Experiment Video

Updated: Oct 4, 2025

Analyzing Tumor Gene Expression Factors with the CorExplorer Web Portal
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A platform for oncogenomic reporting and interpretation.

Caralyn Reisle1,2, Laura M Williamson1, Erin Pleasance1

  • 1Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.

Nature Communications
|February 10, 2022
PubMed
Summary
This summary is machine-generated.

Precision oncology faces challenges with manual variant interpretation. A new open-source platform, PORI, streamlines reporting and interpretation of cancer genomic data for broader applications.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Manual interpretation of cancer variants is a bottleneck in precision oncology.
  • Increasingly complex genomic data necessitates advanced interpretative solutions.
  • Precision oncology is expanding from individual patients to population-level studies.

Purpose of the Study:

  • To introduce an open-source platform for interpreting and reporting somatic variants in cancer.
  • To address the need for advanced interpretative platforms in precision oncology.
  • To provide an alternative to commercial solutions for comprehensive genomic datasets.

Main Methods:

  • Developed the Platform for Oncogenomic Reporting and Interpretation (PORI).
  • Integrated reporting tools with a graph knowledge base and manual curation support.
  • Applied PORI to a dataset of 9,961 pan-cancer genome atlas tumors.

Main Results:

  • PORI facilitates the interpretation and reporting of somatic variants.
  • Matched 9,961 tumors to the graph knowledge base.
  • Identified therapeutically informative alterations and generated sample reports.

Conclusions:

  • PORI offers an open-source solution for oncogenomic data interpretation.
  • The platform supports comprehensive genomic datasets in precision oncology.
  • PORI enhances the efficiency of variant interpretation and reporting.