Magnolya is a tool to detect copy number variation (CNV) within two individual genome sequences. The Magnolya algorithm uses a Poisson mixture model to identify CNV between two genomes by joining the strings into a single assembly, creates a graph, and traverses the edges and nodes to infer the CNV probabilities. This approach eliminates the need for segmentation of the genomic regions and mapping to a reference genome.
Whole genome sequencing; Genetics; Genetic variation
Nijkamp JF, van den Broek MA, Geertman JM, Reinders MJ, Daran JM, de Ridder D "De novo detection of copy number variation by co-assembly." Bioinformatics. 2012 Dec 15;28(24):3195-202. Epub 2012 Oct 9. https://doi.org/10.1093/bioinformatics/bts601
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