ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data
Author(s) -
Javad Nadaf,
Jacek Majewski,
Somayyeh Fahiminiya
Publication year - 2014
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btu665
Subject(s) - exome sequencing , allele , exome , genetics , computational biology , computer science , biology , gene , mutation
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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