ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data.
basic_science · Level V
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- Record sourced from PubMed, PMID 25297069.
- Also identified by DOI 10.1093/bioinformatics/btu665 and PMC identifier 4308664.
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Abstract
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. ExomeAI is a web-based application, publicly available at: http://genomequebec.mcgill.ca/exomeai. JavadNadaf@gmail.com or somayyeh.fahiminiya@mcgill.ca Supplementary data are available at Bioinformatics online.
Medical subject headings
- Allelic Imbalance
- Exome
- Genome, Human
- Neoplasms
- Sequence Analysis, DNA
- Software