The Infinium Global Screening Array-24 v2.0 BeadChip combines multi-ethnic genome-wide content, curated clinical research variants, and quality control (QC) markers for precision medicine research.
The genome-wide content was selected for high imputation accuracy at minor allele frequencies of >1% across all 26 1000 Genomes Project populations. The clinical research content includes variants with established disease associations, relevant pharmacogenomics markers, and curated exonic content based on ClinVar, NHGRI, PharmGKB, and ExAC databases. Quality control content enables sample identification and tracking for large-scale genomics and screening applications.
With over 5.5 million samples worth of beadchips sold prior to commercial launch, the array’s global adoption provides a network of human disease researchers, healthcare networks, consumer genomics companies, and genomic service providers to help power discovery.
Broad Clinical Research Applications
The array provides a genomic tool for clinical research applications including disease risk profiling studies, pharmacogenomics research, wellness characterization, and complex disease discovery.
In March 2018, Illumina released a free update enhancing coverage in pharmacogenomics, ClinVar, HLA, and ACMG variants.
Robust Assay and High-Throughput Workflow
The array supports genotyping and CNV calling for sample types including saliva, blood, and buccal swabs. The format also enables processing of thousands of samples per week with a 3-day workflow for population-scale studies.