Structural variability is a substantial source of genetic variation that has a major influence on phenotypic variation. Illumina products allow researchers to profile chromosomal aberrations such as amplifications, deletions, rearrangements, point mutations, copy number changes, and copy-neutral loss of heterozygosity (LOH) events. Illumina offers a broad portfolio of genome-wide analysis BeadChips that enable researchers to analyze structural variation at varying levels of resolution, from routine cytogenetic screening to sample profiling with up to 1.2 million markers to examine both known and novel variants.

Complete Genome-Wide Coverage in Multi-Sample Array Formats

Illumina's revolutionary Infinium HD technology allows for unconstrainted design of SNP or intensity-only markers, enabling dense, uniform coverage across the genome and the ability to target high-value genomic regions. From 300,000 markers on the HumanCytoSNP-12 BeadChip to more than 1.25 million markers per sample on the HumanOmni1S, Infinium HD BeadChips support high-resolution copy number and LOH analysis with median marker spacing down to 1.2 kb.

FFPE Sample Analysis

Formalin-fixed paraffin-embedded (FFPE) archival tissue samples provide an enormous and invaluable repository of information for cytogenetic research. However, the fixation process and storage of FFPE samples frequently leads to nucleic acid degradation and base modification. Until recently, degraded DNA from FFPE samples generally resulted in poor performance using the Infinium HD Assay, as they were inefficiently amplified in the whole-genome amplification step. To overcome this problem, Illumina has developed an Infinium FFPE sample restoration solution that provides a simple workflow to QC samples, repair damaged DNA, and achieve high-quality data using the Infinium HD Assay.

Better Detection

The Infinium Assay simultaneously measures intensity differences and allelic ratios, enabling the profiling of intercellular mosaicism and copy-neutral LOH events such as uniparental disomy (UPD), mitotic recombination, or gene conversion events, all of which cannot be detected on array-CGH platforms.

Simplified Analysis

Analysis of Infinium HD BeadChip data is supported by Illumina's GenomeStudio Studio Genotyping Module and the standalone KaryoStudio data analysis software package, which was developed in collaboration with molecular cytogeneticists. In addition, through the illumina•connect program, Illumina data can be analyzed using other common cytogenetics analysis programs.