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Updated: Oct 3, 2025
Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
CNGPLD: case-control copy-number analysis using Gaussian process latent difference
David J H Shih1,2,3, Ruoxing Li3, Peter Müller4,5,6
1Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
Motivation:
Cross-sectional analyses of primary cancer genomes have identified regions of recurrent somatic copy-number alteration, many of which result from positive selection during cancer formation and contain driver genes. However, no effective approach exists for identifying genomic loci under significantly different degrees of selection in cancers of different subtypes, anatomic sites or disease stages.
Results:
CNGPLD is a new tool for performing case-control somatic copy-number analysis that facilitates the discovery of differentially amplified or deleted copy-number aberrations in a case group of cancer compared with a control group of cancer. This tool uses a Gaussian process statistical framework in order to account for the covariance structure of copy-number data along genomic coordinates and to control the false discovery rate at the region level.
Availability And Implementation:
CNGPLD is freely available at https://bitbucket.org/djhshih/cngpld as an R package.
Supplementary Information:
Supplementary data are available at Bioinformatics online.
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