Whole-genome genotyping on bead arrays

Area of Science:

• Genomics
• Molecular Biology
• Biotechnology

Background:

• Whole genome genotyping technologies are crucial for genetic association studies.
• Existing methods may have limitations in throughput and SNP coverage.
• Advancements are needed to facilitate large-scale genomic analyses.

Purpose of the Study:

• To describe the laboratory implementation of Infinium whole genome genotyping (WGG) technology.
• To highlight its application in whole genome association studies (WGAS) and copy number variation (CNV) studies.
• To present an automated platform for high-throughput SNP genotyping.

Main Methods:

• The Infinium WGG assay utilizes whole genome amplification followed by SNP genotyping via primer extension on an array.
• Genomic DNA (gDNA) is captured on an array, and single nucleotide polymorphisms (SNPs) are genotyped using hapten-labeled nucleotides.
• The assay is automated using the Tecan GenePaint system, integrating hybridization, washing, primer extension, and staining.

Main Results:

• The Infinium assay combined with high-density BeadChips enables genotyping of over one million SNPs per slide.
• Automation significantly enhances assay robustness, throughput, and sample tracking via Laboratory Information Management System (LIMS).
• The technology has been successfully applied to WGAS and CNV studies.

Conclusions:

• Infinium WGG technology represents a significant advancement in high-density SNP genotyping.
• The automated platform increases efficiency and reliability for large-scale genomic research.
• This technology facilitates comprehensive whole genome association and copy number analyses.