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 conditions.
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. 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.
Results are delivered to the customer via electronic FTP transfer and are only stored by Gene By Gene for 30-60 days.
By default, Gene By Gene will provide buccal (cheek) swab kits with each order. Each test requires two buccal swabs which are included in each kit. This is the preferred sample collection method. Each kit comes with return packaging and pre-paid shipping label. *Shipping fees may apply to orders outside the United States.
If necessary, Gene By Gene can accept most DNA sample types, including:
- Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples
- Blood: 3-5cc drawn in EDTA (purple-top) tube (additional $50 extraction fee per sample)
- Shipping: For all non-buccal sample types, ship at room temperature
Following the manufacturer’s protocol, samples are analyzed using the Illumina HumanOmniExpress BeadChip process and genome build GRCh37/hg19. All data collected is evaluated using Illumina’s GenomeStudio v2.0 software. Genotypes obtained from the Illumina Global Screening Array can be used to identify copy number variations (CNVs).