The 12-sample HumanCytoSNP-12 BeadChip is a powerful, whole-genome scanning panel designed for efficient, high-throughput analysis of genetic and structural variations that are most relevant to human disease. This scalable, proven solution offers substantially better resolution to detect smaller regions than fluorescence in situ hybridization (FISH) or comparative genomic hybridization (CGH).1
- Complete panel of genome-wide tag single nucleotide polymorphisms (SNPs) and markers targeting all regions of known cytogenetic importance, incorporating ~300,000 “best of the best” SNPs with the highest tagging power
- Average SNP call rates and reproducibility of > 99.9%, and low noise for copy number measurements
- Detect many types and sizes of structural variation in the human genome that affect phenotypes, including duplications, deletions, amplifications, copy-neutral loss of heterozygosity (LOH), and mosaicism
- Process up to 12 samples in parallel, increasing sample throughput and decreasing experimental variability
- Process samples using the single-tube, PCR-free Infinium HD Assay that requires only 200ng DNA per sample
- Comprehensive data analysis with intuitive BlueFuse Multi Software streamlines copy number assessment and results reporting
The HumanCytoSNP-12 BeadChip is optimized to detect cytogenetic abnormalities most relevant to human disease.1-2 Content includes ~300,000 SNPs targeting regions shown to be important for cytogenetic analysis. The result is dense coverage of ~250 disease regions, including subtelomeric regions, pericentromeric regions, and sex chromosomes, commonly screened in cytogenetics labs. Sufficient SNP coverage is provided to determine dosage sensitivity of > 800 genes.