EnsembleCNV is a tool to detect and genotype copy number variation (CNV). It uses single nucleotide polymorphism (SNP) data. The algorithm eliminates batch effects on raw data, assembles CNV calls into regions by a heuristic algorithm, re-computes genotypes for each copy number variable region using an adjusted local likelihood model, computes refined CNV boundaries, and CNV genotypes with a confidence score.
Zhang Z, Cheng H, Hong X, Di Narzo AF, Franzen O, Peng S, Ruusalepp A, Kovacic JC, Bjorkegren JLM, Wang X, Hao K "EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data." Nucleic Acids Res. 2019 Apr 23;47(7):e39. https://doi.org/10.1093/nar/gkz068
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