ExomeAI specifications

Information


Unique identifier OMICS_06386
Name ExomeAI
Interface Web user interface
Restrictions to use None
Computer skills Basic
Stability Stable
Maintained No

Maintainer


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Publication for ExomeAI

ExomeAI in publications

 (3)
PMCID: 5663045
PMID: 29084603
DOI: 10.1186/s40478-017-0479-8

[…] variants were performed using sanger sequencing or high-depth sequencing on an illumina miseq as previously described []., allelic imbalance was assessed in whole exome sequencing data using the exomeai program [] for 15 phgg tumor pairs using the default parameters of the program. hgg1 was not analyzed due to low wes coverage of the recurrence tumor. copy number variations (cnvs) […]

PMCID: 5192301
PMID: 28070503
DOI: 10.1155/2016/7983236

[…] to merge adjacent segments to call a set of scnas. these scnas could be further classified as large-scale (>25% of chromosome arm) or focal (<25%) events in the wes data []., recently, exomeai was developed to detect allelic imbalance (ai) from wes data []. utilizing heterozygous sites, exomeai finds deviations from the expected 1 : 1 ratio between an a- and b-allele in multiple […]

PMCID: 4823825
PMID: 27048880
DOI: 10.1038/ncomms11185

[…] developed an in-house program to calculate the deviation of b allele frequency from 50% as well as normalized coverage from whole exome sequencing data (adapted from methods used in fishingcnv and exomeai). different cnv events (duplication, deletion and copy neutral loh) were called based upon the b allelic imbalance and the status of the normalized coverage as follow: deviation from 50% b […]


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ExomeAI institution(s)
Department of Human Genetics, Faculty of Medicine, McGill University and Genome Quebec Innovation Center, Montreal, QC, Canada

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