Products /
Human1M-Duo DNA Analysis BeadChip Kits
Human1M-Duo DNA Analysis BeadChip Kits
| 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 8 to 192 BeadChips, along with reagents for amplifying, fragmenting, hybridizing, labeling, and detecting 16-384 whole-genome genotyping samples |
The two-sample Human1M-Duo DNA Analysis BeadChip, powered by Illumina's Infinium HD Assay, interrogates nearly 1.2 million loci per sample, providing the industry’s most comprehensive genome-wide coverage of single nucleotide polymorphisms (SNPs). Human1M-Duo BeadChip content is focused on tag SNPs, SNPs in genes, and SNPs and non-polymorphic markers in known and novel copy number variation (CNV) regions.
The BeadChip format enables simultaneous processing of two samples at a time, increasing sample throughput and decreasing experimental variability. The uniform genome-wide coverage results in a median spacing of 1.5 kb between markers and fewer large gaps for high-resolution CNV identification and cytogenetics.
In addition to the broad coverage crucial for successful genome-wide association studies, the Human1M-Duo BeadChip targets other high-value content:
- More than 10,000 SNPs and non-polymorphic probes are focused in the 4.3 Mb major histocompatibility complex (MHC) region, which contains a high density of genes often associated with autoimmune and infectious diseases
- More than 20,000 markers in more than 300 important gene regions related to drug metabolism support ADME (absorption, distribution, metabolism, and excretion) studies and pharmacogenomics research to improve drug efficacy
- Around 60,000 additional CNV-targeted markers, developed in collaboration with deCODE Genetics, cover regions likely to contain undiscovered CNVs; these include segmental duplications, megasatellites, and regions lacking SNPs
- Up to 60,800 SNPs of choice can be added with the semi-custom Human1M-Duo+ BeadChip
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.
More...