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HumanCytoSNP-12 DNA Analysis BeadChip Kits
HumanCytoSNP-12 DNA Analysis BeadChip Kits
| System: | iScan, BeadStation, BeadArray Reader, HiScanSQ |
|---|---|
| Technology: | BeadArray |
| Assay: | Infinium DNA Analysis Assay |
| Applications: | Cytogenetic Analysis, Whole-Genome Genotyping and Copy Number Analysis |
| Species: | Human |
| Contents: | Each kit contains 1 to 96 BeadChips, along with reagents for amplifying, fragmenting, hybridizing, labeling, and detecting 12 to 1152 DNA samples |
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 the most relevant to human disease. It offers substantially better resolution to detect smaller regions than FISH or CGH. Studies can achieve average SNP call rates and reproducibility of >99%, and low noise for copy number measurements.
Many types and sizes of structural variation in the human genome that affect phenotypes can be detected with the HumanCytoSNP-12 BeadChip, including duplications, deletions, amplifications, copy-neutral LOH, and mosaicism.
This BeadChip includes a complete panel of genome-wide tag SNPs and markers targeting all regions of known cytogenetic importance. It incorporates 200,000 “best of the best” SNPs with the highest tagging power, providing exceptional genome-wide coverage.
220,000 markers provide useful content for cytogenetic analysis. This includes dense coverage of around 250 genomic regions commonly screened in cytogenetics laboratories, including subtelomeric regions, pericentromeric regions, sex chromosomes, and targeted coverage in around 400 additional disease-related genes.
Downstream data analysis is fully supported with Illumina's KaryoStudio and GenomeStudio software.
- Process up to 12 samples in parallel, thus 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.
Illumina's freely accessible iControlDB is an online database of genotype and phenotype data from individuals on all ILMN’s GWAS arrays that can be used as controls for association or imputation studies.
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Applications
Whole-Genome Genotyping and Copy Number Variation Analysis
Genome-wide association studies (GWAS) map genetic variation across human populations to identify variants associated with human disease. Infinium HD BeadChips offer GWAS researchers the flexibility to profile samples with 300,000 to 1.2 million markers in high-throughput format, and deliver dense genome-wide coverage with the most up-to-date content available from the scientific community. Strategically selected probes provide sensitive copy number variation analysis and target high-value regions of the genome associated with disease.
More...Cytogenetic Analysis
Structural variability is a substantial source of genetic variation that has a major influence on phenotypic variation. Cytogenetic analysis allows researchers to profile chromosomal aberrations such as amplifications, deletions, rearrangements, point mutations, copy number changes, and copy-neutral loss of heterozygosity (LOH) events.
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