Infinium assay for large-scale SNP genotyping applications

Area of Science:

• Genomics
• Human Genetics
• Molecular Biology

Background:

• Genotyping human genome variants is crucial for identifying genetic associations with phenotypes and disease factors.
• Population and family-based variant distribution aids in pinpointing genetic causes of diseases.

Purpose of the Study:

• To describe the application of Illumina's genotyping BeadChips and the Infinium assay for high-throughput analysis of genomic variants.
• To highlight the efficiency and accuracy of the Infinium assay for genotyping single nucleotide polymorphisms (SNPs) and other genomic variations.

Main Methods:

• Utilizes Illumina's genotyping BeadChips for large-scale SNP and copy number variant analysis.
• Employs the Infinium assay, involving DNA amplification, fragmentation, hybridization, single-base extension, staining, and scanning on iScan or Hi Scan systems.
• Features whole-genome amplification without PCR, with two overnight incubation steps for DNA amplification and array hybridization.

Main Results:

• The Infinium assay is optimized for high-quality, accurate genotyping results.
• A single technician can process hundreds to over a thousand DNA samples weekly.
• The assay streamlines the process from genomic DNA to scanned array data within three days.

Conclusions:

• The Infinium assay provides an efficient and rapid method for genotyping numerous DNA samples.
• High throughput is achievable by stockpiling amplified DNA and processing bead arrays daily.
• This technology facilitates accelerated discovery of genetic factors influencing human phenotypes and diseases.