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 OUTlier detection)] for targeted interrogation of CNVs using Illumina Infinium II and GoldenGate SNP assays. SCIMMkit is applicable to standardized genome-wide SNP arrays and customized multiplexed SNP panels, providing economy, efficiency and flexibility in experimental design.
Availability: Source code and documentation are available for noncommercial use at http://droog.gs.washington.edu/scimmkit.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2796813 | PMC |
| http://dx.doi.org/10.1093/bioinformatics/btp606 | DOI Listing |
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