CNVreg:CNV-Profile Regression for Copy Number Variants Association
Analysis with Penalized Regression
Performs copy number variants association analysis with Lasso and Weighted Fusion penalized regression. Creates a "CNV
profile curve" to represent an individual’s CNV events across a
genomic region so to capture variations in CNV length and
dosage. When evaluating association, the CNV profile curve is
directly used as a predictor in the regression model, avoiding
the need to predefine CNV loci. CNV profile regression
estimates CNV effects at each genome position, making the
results comparable across different studies. The penalization
encourages sparsity in variable selection with a Lasso penalty
and encourages effect smoothness between consecutive CNV events
with a weighted fusion penalty, where the weight controls the
level of smoothing between adjacent CNVs. For more details, see
Si (2024) <doi:10.1101/2024.11.23.624994>.