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Human1M-Duo 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 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

Order Information

Required Products

iScan

Specifications

Learn more about how this product is used.

	Comprehensive Coverage of high-value regions:

	BeadChip			Human1M-Duo v3
	Number of Markers per Sample			1,199,187
	Number of Samples per BeadChip			2
	DNA Input Requirement (per sample)			400 ng
	Genomic Coverage
	CEU (Mean / Median / r² > 0.8)			0.96 / 1.0 / 0.95
	CHB+JPT			0.95 / 1.0 / 0.93
	YRI			0.86 / 1.0 / 0.76
	Minor Allele Frequency*
	CEU (Mean / Median / r² > 0.8)			0.20 / 0.18
	CHB+JPT			0.18 / 0.16
	YRI			0.20 / 0.17
	Spacing (kb)
	(Mean / Median)			2.4 / 1.5
	90th %ile Largest Gap			6.0
	Marker Categories
	Markers Within 10 kb of a RefSeq Gene			672,002
	Non-Synonymous SNPs			21,877
	MHC^† / ADME^‡ / Indel SNPs			10,415 / 20,493 / 483
	Sex Chromosome (X / Y PAR Loci)			45,591 / 4,637 / 979
	Mitochondrial SNPs			138
	Based on HapMap rel 24 for HumanCytoSNP-12 and Human660W-Quad, and rel 23 for Human1M-Duo. *Based on RefSeq and Ensembl databases. ^†As defined by de Bakker, 2006 ^‡Within 10 kb of 333 known ADME-related genes.

Contents of the Human1M-Duo DNA Analysis BeadChip Kits:
Catalog Number	WG-311-1005 WG-311-1002 WG-311-1003 WG-311-1004
Number of Samples	16 48 96 384
Number of BeadChips	8 24 48 192
Ship at -65° to -85°C. Store at -15° to -25°C.
MP1 (Neutralization Solution)	2.7 ml 8.1 ml (3 x 2.7 ml) 16.2 ml (6 x 2.7 ml) 64.8 ml (24 x 2.7 ml)
AMM (Amplification Master Mix)	2.7 ml 8.1 ml (3 x 2.7 ml) 16.2 ml (6 x 2.7 ml) 64.8 ml (24 x 2.7 ml)
FRG (Fragmentation Solution)	2.1 ml 6.3 ml (3 x 2.1 ml) 12.6 ml (6 x 2.1 ml) 50.4 ml (24 x 2.1 ml)
PA1 (Precipitation Solution)	5.0 ml 15 ml (3 x 5.0 ml) 30 ml (6 x 5.0 ml) 120 ml (24 x 5.0 ml)
RA1 (Resuspention, Hybridization, and Wash Solution)	55 ml 55 ml 110 ml 360 ml (2 x 180 ml)
XC1 (XStain BeadChip Solution 1)	4.0 ml (2 x 2.0 ml) 12 ml (6 x 2.0 ml) 24 ml (12 x 2.0 ml) 96 ml (48 x 2.0 ml)
XC2 (XStain BeadChip Solution 2)	4.0 ml (2 x 2.0 ml) 12 ml (6 x 2.0 ml) 24 ml (12 x 2.0 ml) 96 ml (48 x 2.0 ml)
TEM (Two-Color Extention Master Mix)	2.0 ml (2 x 1.0 ml) 6.0 ml (6 x 1.0 ml) 12 ml (12 x 1.0 ml) 48 ml (48 x 1.0 ml)
ATM (Anti-Stain Two-Color Extention Master Mix)	2.3 ml 4.6 ml (2 x 2.3 ml) 13.8 ml (6 x 2.3 ml) 110.4 ml (48 x 2.3 ml)
STM (Superior Two-Color Master Mix)	6.6 ml (2 x 3.3 ml) 19.8 ml (6 x 3.3 ml) 39.6 ml (12 x 3.3 ml) 158.4 ml (48 x 3.3 ml)
XC4 (XStain BeadChip Solution 4)	29 ml 29 ml 58 ml (2 x 29 ml) 232 ml (8 x 29 ml)
Ship at RT. Store at RT.
PB2 (Humidifying Buffer)	4.0 ml 24 ml (6 x 4.0 ml) 60 ml 180 ml (3 x 60 ml)
PB1 (Hybridization Preparation Buffer)	950 ml 2.85 L (3 x 950 ml) 5.7 L (6 x 950 ml) 22.8 L (24 x 950 ml)
XC3 (XStain BeadChip Solution 3)	80 ml 240 ml 480 ml 1.92 L (8 x 240 ml)

Infinium HD Assay

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 up to 5 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.

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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.