ORE (Outlier-RV Enrichment) is a tool for the identification of non-coding rare variants in RNA-seq data. The ORE algorithm detects biologically significant outliers having more or less rare variants than expected by chance. Requires: Python >= 3.5.0, bedtools >= 2.2.7.0, samtools >= 1.3, and bcftools >=1.6.
Genetic variation; RNA-seq
Richter F, Hoffman GE, Manheimer KB, Patel N, Sharp AJ, McKean D, Morton SU, DePalma S, Gorham J, Kitaygorodksy A, Porter GA, Giardini A, Shen Y, Chung WK, Seidman JG, Seidman CE, Schadt EE, Gelb BD "ORE identifies extreme expression effects enriched for rare variants." Bioinformatics. 2019 Oct 15;35(20):3906-3912. https://doi.org/10.1093/bioinformatics/btz202
PMID: 30903145
PMCID: PMC6792115
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