The Infinium Global Screening Array-24 v3.0 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. QC content enables sample identification and tracking for large-scale genomics and screening applications.
With over 15 million samples worth of BeadChips sold, the Global Screening 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.
Version 3 of the Global Screening Array leverages the most up to date and relevant clinical research screening markers derived from ClinVar, CPIC, and PharmGKB.
As leading databases such as ClinVar continue to rapidly add new variants, Illumina is dedicated to ensuring the variants interrogated on the GSA remain updated and relevant. The launch of the Infinium GSA-24 v3.0 BeadChip includes an update of key variants found in ACMG 59 genes. A growing number of precision medicine research initiatives around the world are leveraging these variants to screen populations for the following applications:
- Studying disease risk by investigating the role of ClinVar designated "Pathogenic" and "Likely Pathogenic" variants in the likelihood of developing a phenotype and the frequency of such alleles within a given population.
- Stratifying samples to allow for cost savings by enabling a program to focus more elaborate testing on select samples that are flagged as having interesting or suspicious findings.
- Incentivizing participation and providing value to participants through return of results, boosting project sample sizes and discovery power.
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.
View Manifest (Array Content) Files