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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Combined burden and functional impact tests for cancer driver discovery using DriverPower

Author

  • Shimin Shuai
  • Steven Gallinger
  • Lincoln D Stein

Other contributions

  • Åke Borg
  • Markus Ringnér
  • Johan Staaf

Summary, in English

The discovery of driver mutations is one of the key motivations for cancer genome sequencing. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumour types, we describe DriverPower, a software package that uses mutational burden and functional impact evidence to identify driver mutations in coding and non-coding sites within cancer whole genomes. Using a total of 1373 genomic features derived from public sources, DriverPower's background mutation model explains up to 93% of the regional variance in the mutation rate across multiple tumour types. By incorporating functional impact scores, we are able to further increase the accuracy of driver discovery. Testing across a collection of 2583 cancer genomes from the PCAWG project, DriverPower identifies 217 coding and 95 non-coding driver candidates. Comparing to six published methods used by the PCAWG Drivers and Functional Interpretation Working Group, DriverPower has the highest F1 score for both coding and non-coding driver discovery. This demonstrates that DriverPower is an effective framework for computational driver discovery.

Department/s

  • LUCC: Lund University Cancer Centre
  • Familial Breast Cancer
  • Breastcancer-genetics
  • Molecular Cell Biology
  • Breast/lungcancer
  • Research Group Lung Cancer

Publishing year

2020-02-05

Language

English

Pages

734-734

Publication/Series

Nature Communications

Volume

11

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Medical Genetics

Keywords

  • Algorithms
  • Genome, Human
  • Genomics/methods
  • Humans
  • MEF2 Transcription Factors/genetics
  • Mutation
  • Mutation Rate
  • Neoplasms/genetics
  • Peptide Elongation Factor 1/genetics
  • Receptors, G-Protein-Coupled/genetics
  • Software
  • Whole Genome Sequencing

Status

Published

Research group

  • Familial Breast Cancer
  • Research Group Lung Cancer

ISBN/ISSN/Other

  • ISSN: 2041-1723