Oops, you're using an old version of your browser so some of the features on this page may not be displaying properly.

MINIMAL Requirements: Google Chrome 24+Mozilla Firefox 20+Internet Explorer 11Opera 15–18Apple Safari 7SeaMonkey 2.15-2.23

Poster Discussion session - Basic science

4275 - Automatic interpretation of cancer genomes creates the largest repository of tumor genetic driver events

Date

29 Sep 2019

Session

Poster Discussion session - Basic science

Presenters

Francisco Martínez Jiménez

Citation

Annals of Oncology (2019) 30 (suppl_5): v1-v24. 10.1093/annonc/mdz238

Authors

F. Martínez Jiménez, F. Muiños, O. Pich, A. González-Perez, N. López-Bigas

Author affiliations

  • Biomedical Genomics, Institute for Research in Biomedicine (IRB Barcelona), 8028 - Barcelona/ES

Resources

Login to access the resources on OncologyPRO.

If you do not have an ESMO account, please create one for free.

Abstract 4275

Background

Tumor genome sequencing is becoming widely available in the clinical setting. However, the interpretation of tumor somatic variants remains an important challenge to implement precision cancer medicine.

Methods

Here, we present IntOGen, a platform aimed for tumor genome interpretation. The first component of the platform is an automatic pipeline for cancer driver gene identification across cohorts. This pipeline implements several bioinformatics methods to detect driver genes, on the basis of signals of positive selection in their mutational pattern across tumor cohorts. It also annotates several oncogenomic features that shed light onto the role of driver genes in the development of each malignancy. The second component of the platform leverages these features to identify the somatic mutations that drive the tumor of each patient providing additional information about the possible effect of driver mutations on treatment response.

Results

We have applied the framework to more than 50,000 tumors across more than 60 tumors types creating the largest repository of tumor genetic driver events. This comprehensive oncogenomics repository is the third component of IntOGen.

Conclusions

All the results and framework are available online to the cancer genomics research community at www.intogen.org, which we envision can support a broad range of oncology use cases.

Clinical trial identification

Editorial acknowledgement

Legal entity responsible for the study

Institute for Research in Biomedicine (IRB, Barcelona).

Funding

Ministerio de Educación y Ciencia de España (SAF-2015-R-66084 and RTI2018-094095-B-I00) Instituto Nacional de Bioinformática (INB) - PT17/0009/0013.

Disclosure

All authors have declared no conflicts of interest.

This site uses cookies. Some of these cookies are essential, while others help us improve your experience by providing insights into how the site is being used.

For more detailed information on the cookies we use, please check our Privacy Policy.

Customise settings
  • Necessary cookies enable core functionality. The website cannot function properly without these cookies, and you can only disable them by changing your browser preferences.