TrioCNV is a tool designed for the detection of copy number variation (CNV), jointly occurring in parents and offsprings. The algorithm uses negative binomials regression, evaluates GC content and mappability biases, constrained by Mendelian inheritance, and combines these models using Hidden Markov Model (HMM).
Genetics; Whole genome sequencing; Genetics; Genetic variation
Liu Y, Liu J, Lu J, Peng J, Juan L, Zhu X, Li B, Wang Y "Joint detection of copy number variations in parent-offspring trios." Bioinformatics. 2016 Apr 15;32(8):1130-7. https://doi.org/10.1093/bioinformatics/btv707
PMID: 26644415
PMCID: PMC4907378
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