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


ABSTRACT:

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.

SUBMITTER: Nadaf J 

PROVIDER: S-EPMC4308664 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature

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Publications

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

Nadaf Javad J   Majewski Jacek J   Fahiminiya Somayyeh S  

Bioinformatics (Oxford, England) 20141008 3


<h4>Summary</h4>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 no  ...[more]

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