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Description

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>.

CNVreg Package

Introduction

The CNVreg package provides functions to perform copy number variants (CNV) association analysis with penalized regression model.

This package convert CNVs over a genomic region as a piecewise constant curve to capture the dosage and length of CNVs. The association analysis is then evaluated by regressing outcome traits on all CNV fragments in the region while adjusting for covariates. The corresponding CNV effects are obtained at each genome position. The penalized regression model with Lasso and weighted fusion penalties would perform variable selection and encourage adjacent CNVs to share similar effect size.

This package has 3 main functions:

  • prep(): Data preprocessing and format conversion.

  • cvfit_WTSMTH(): Model fitting and effect estimate with cross-validation(CV). The CV procedure is to tune an optimal model by selecting the best pair of candidate tuning parameters.

  • fit_WTSMTH(): Model fitting and effect estimate with a given pair of tuning parameters.

We have a more detailed tutorial for all functions using an example data included in the CNVreg package.

Please see the CNVregvignette for a quick tour of the CNVreg package.

Metadata

Version

1.0

License

Unknown

Platforms (76)

    Darwin
    FreeBSD
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