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Updated: Apr 22, 2026
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data
Javad Nadaf1, Jacek Majewski1, Somayyeh Fahiminiya1
1Department of Human Genetics, Faculty of Medicine, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.
Summary:
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.
Availability:
ExomeAI is a web-based application, publicly available at: http://genomequebec.mcgill.ca/exomeai.
Contact:
JavadNadaf@gmail.com or somayyeh.fahiminiya@mcgill.ca
Supplementary Information:
Supplementary data are available at Bioinformatics online.
