| System: | iScan, iScanSQ, BeadStation, BeadArray Reader |
|---|---|
| Technology: | BeadArray |
| Assay: | Infinium DNA Analysis Assay |
| Applications: | Cytogenetic Analysis, Whole-Genome Genotyping and Copy Number Analysis |
| Species: | Human |
| Contents: | Each kit contains 4 to 96 BeadChips, along with reagents for amplifying, fragmenting, hybridizing, labeling, and detecting 16 to 384 whole-genome genotyping samples |
The completely redesigned four-sample HumanOmni1-Quad BeadChip contains aggressively selected single nucleotide polymorphisms (SNPs) and probes that capture more genomic variation and provide the best power for genome-wide association studies (GWAS) and CNV discovery.
Cutting-edge content includes markers derived from the 1,000 Genomes Project, all three HapMap phases, and recently published studies. Each BeadChip features over one million available assays per sample, containing carefully selected content that delivers dense coverage of the human genome and targets regions known to play a role in human disease.
Intelligent tag SNP selection has been optimized to maintain comprehensive genomic coverage, while reducing tag SNP redundancy. This has enabled the inclusion of additional content carefully chosen to target high-value regions of the genome and new coding variants identified by the 1000 Genomes Project including:
This content includes around 10,000 SNPs targeting four 1Mb regions known to be associated with three or more human diseases; over 31,000 SNPs predicted to be non-synonymous; 40,000 SNPs covering an additional 100 intervals surrounding published peak markers from the NHGRI GWAS database; and the remaining top single-marker associated SNPs from the GWAS database.
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...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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