Targeted interrogation of copy number variation using SCIMMkit.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 19846438.
- Also identified by DOI 10.1093/bioinformatics/btp606 and PMC identifier 2796813.
- Licence recorded as CC BY-NC.
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Abstract
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. Source code and documentation are available for noncommercial use at http://droog.gs.washington.edu/scimmkit.
Medical subject headings
- Algorithms
- DNA Mutational Analysis
- Gene Dosage
- Gene Targeting
- Genetic Variation
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA