4.7 Article

ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data

Journal

BIOINFORMATICS
Volume 31, Issue 3, Pages 429-431

Publisher

OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btu665

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Funding

  1. Genome Quebec, Genome Canada
  2. Canadian Institutes of Health Research [77764]
  3. Tier II Canada Research Chair award

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Whole-exome sequencing (WES) has extensively been used in cancer genome studies; however, the use of WES data in the study of loss of heterozygosity or more generally allelic imbalance (AI) has so far been very limited, which highlights the need for user-friendly and flexible software that can handle low-quality datasets. We have developed a statistical approach, ExomeAI, for the detection of recurrent AI events using WES datasets, specifically where matched normal samples are not available.

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