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Infinium humanhap550 chip

Manufactured by Illumina

The Infinium HumanHap550 chip is a microarray-based genotyping platform developed by Illumina. It is designed to analyze genetic variations across the human genome, specifically focusing on single nucleotide polymorphisms (SNPs). The core function of this product is to enable high-throughput, genome-wide genotyping of human DNA samples.

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2 protocols using infinium humanhap550 chip

1

Genome-Wide Genotyping in Stroke Cohorts

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Genome-wide genotyping in the Framingham Offspring cohort was performed on the AffymetrixGeneChip Human Mapping 500k Array Set and the 50K Human Gene Focused Panel. The genotyping of the KORA sample was performed with the Affymetrix Human Mapping 500k Array 2 chip set (Sty I and NSP I). Genotypes were imputed in both samples to the HapMap CEU panel using MACH algorithm. Genotyping in the GHS I and GHS II was performed using the Affymetrix Genome-Wide Human SNP Array 6.0 (http://www.affymetrix.com), as described by the Affymetrix user manual.
The individual studies included in the stroke population of the CHARGE consortium had finalized their genome-wide association scans before forming the consortium. In the ARIC study, genotyping was performed with the GeneChip SNP Array 6.0 (Affymetrix); in the Cardiovascular Health Study, the HumanCNV370-Duo (Illumina) was used and in the Rotterdam Study, version 3.0 of the Infinium HumanHap550 chip (Illumina) was used.
In the Leeds stroke cohort we used a fluorescence-based assay (Applied Biosystems) to directly genotype the SNPs reaching genome-wide significance in the discovery analysis for SDMA. Genotyping in the HVH study was performed using the Illumina 370CNV BeadChip system.
Filtering and imputation methods are detailed in the Supplemental Information File Section 2.
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2

APOE Genotyping and Phenotyping Across Cohorts

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In LASA, both phenotyping and genotyping of APOE were available. Phenotyping was performed at the Immunochemistry Laboratory of VUmc, Amsterdam (22 (link)). Genotyping was performed using the Axiom-NL array from Affymetrix (Avera Institute for Human Genetics, South Dakota) or the Infinium Global Screening Array from Illumina (Genetic Laboratory, Erasmus MC, Rotterdam, the Netherlands). APOE could be inferred from two single-nucleotide polymorphisms (SNPs), rs429358 and rs7412. A comparison between phenotyping and genotyping status of APOE showed 96.9% agreement between the two methods. Because more participants had phenotyping data (N = 2,233) compared to genotyping data (N = 1,021), the status determined by phenotyping was included in the analysis.
In InCHIANTI, APOE status was inferred from rs429358 and rs7412 SNPs genotyped on Illumina Infinium HumanHap550 chip at the Laboratory of Neurogenetics of the U.S. National institute on Aging.
In RS, APOE status was assessed at study entry using polymerase chain reaction on coded DNA samples.
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