Whole Genome Genotyping

RIKEN GENESIS has created a world-class laboratory in terms of both quality and genotyping capacity (throughput).

Asia's only fully automated genotyping and our adoption of the Laboratory Information Management System (LIMS) have enabled us to achieve uniform genotyping operations and to eradicate mishandling. We provide more accurate data as fast as possible.

Since June 2009, genetic analysis and experiments have been carried out at RIKEN GENESIS in compliance with our RG-GLP, which is based on the GLP ordinance for pharmaceuticals (ordinance on standards for implementation of nonclinical studies on safety of pharmaceuticals; partial revision of Ministry of Health.
We have established a commissioned business system with high reliability by our RG-GLP to provide drug trial and clinical trial services to pharmaceutical companies and medical research institutes, and have had a good track record in this field.
RIKEN GENESIS also received accreditation for its contract genetic analysis business from the College of American Pathologists (CAP) on May 11, 2010.

RIKEN GENESIS has received Illumina CSPro approval, testifying to the quality of our data and our high level of reliability.

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Product Introduction

The Omni series of Illumina's WGG products are adopted at present.
The Omni products give our customers the most flexible choice according to the budget and research schedule.
The 12-sample HumanCytoSNP-12 BeadChip is specialized in scanning of structural variation of chromosomes.

WGG Product Roadmap

Product Name
Feature
Number of markers Coverage
CHB+JPT,r2>0.8 (※1)
HumanOmni1-Quad The HumanOmni1-Quad BeadChip contains strategically selected content that 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 markers that deliver dense genome-wide coverage. 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 associated with human disease.
Spacing(Mean / Median)
2.63 / 1.25 kb
1,138,747 HapMap MAF>5% / 1kGP MAF>2.5%
0.93 / 0.74
HumanOmni1S-8

The HumanOmni1S-8 (Omni1S) BeadChip is a remarkably priced tool for rapid integration of new rare 1000 Genomes content onto the Omni1/Express for 2-2.5M total variants (targeting MAF> 2.5%). Using the proven iScan or HiScanSQ System, this BeadChip offers not only high throughput, but optimized tag SNP content from recently released 1000 Genomes Project pilot data. With the highest data quality and cutting edge content, including full support of copy number variation (CNV) applications, this powerful genotyping tool allows you to make more meaningful discoveries and publish faster.
Spacing(Mean / Median)
2.45 / 1.29 kb

1,185,976 1kGP MAF>5% / 1kGP MAF >2.5%
0.82 / 0.78
HumanOmniExpress The HumanOmniExpress (OmniExpress) BeadChip is a powerful tool for genome-wide association studies (GWAS), providing high sample throughput and coverage of common variants at the industry's best price. Using the proven iScan or HiScan System, this BeadChip offers unrivaled throughput of thousands of samples per week. Optimized tag SNP content from all three HapMap phases has been strategically selected to capture the greatest amount of common variation and drive the discovery of novel associations with traits and diseases.
Spacing(Mean / Median)
3.98 / 2.17 kb
731,442 HapMap MAF>5% / 1kGP MAF >2.5%
0.91 / 0.74
HumanOmni2.5-Quad The HumanOmni2.5 BeadChip delivers the most comprehensive coverage of both common and rare SNP content from the 1000 Genomes Project(1kGP; MAF> 2.5%), designed to be maximally powerful for diverse world populations. Using the proven iScan or HiScanSQ System, this BeadChip offers high throughput and optimized tag SNP content, including full support of copy number variation (CNV) applications.
Spacing(Mean / Median)
1.19 /0.64 kb
2,443,179 1kGP MAF>5% / 1kGP MAF >2.5%
0.89 / 0.87
HumanOmni2.5-8 The HumanOmni2.5-8 (Omni2.5) BeadChip offers the most optimal and comprehensive set of both common and rare SNP content from the 1kGP (MAF>2.5%) for diverse world populations. Using the proven iScan or HiScanSQ System, this BeadChip offers not only high throughput, but optimized tag SNP content from recently released 1000 Genomes Project pilot data. With the highest data quality and cutting edge content, including full support of copy number variation (CNV) applications, this powerful genotyping tool allows you to make more meaningful discoveries and publish faster.
Spacing(Mean / Median)
1.19 /0.64 kb
2,379,855 1kGP MAF>5% / 1kGP MAF >2.5%
0.89 / 0.87
HumanCytoSNP12-v2.1 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.
Spacing(Mean / Median)
9.7 /6.2 kb
299,140 Mean/Median/r2>0.8
0.83/0.94/0.73

(※1)Except for HumanCytoSNP-12v2.1

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