Article
Targeted interrogation of copy number variation using SCIMMkit.
Bioinformatics (Oxford, England) - 1 Jan 2010
Zerr Troy, Cooper Gregory M, Eichler Evan E, Nickerson Deborah A
Abstract excerpt
SUMMARY: Copy number variants (CNVs) contribute substantially to human genomic diversity, and development of accurate and efficient methods for CNV genotyping is a central problem in exploring human genotype-phenotype associations. SCIMMkit provides a robust, integrated implementation of three previously validated algorithms [SCIMM (SNP-Conditional Mixture Modeling), SCIMM-Search and SCOUT (SNP-Conditional...
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