Single nucleotide polymorphisms (SNPs) and structural variants are at the root of genetic variation among individuals and populations. This variation influences how individuals differ in their risk of disease and their response to therapeutic treatments. SNPs and structural variants are discovered within the genome by comparing multiple genomic sequences from a diverse sample set of individuals. Illumina's industry-leading sequencing technology provides the sample throughput level and high-quality data required for accurate SNP discovery and structural variation analysis studies.
SNP discovery studies provide valuable allelic variation information that can be translated into content for genotyping experiments on BeadArray products. SNP discovery is at the heart of large world-wide collaborative studies like the HapMap Project and the 1000 Genomes Project, which aim to comprehensively catalog human genetic variation. The data generated by these cutting-edge studies is an important source of content for Illumina's broad portfolio of whole-genome genotyping BeadArray products. While the majority of SNP discovery studies and array-based products focus on human genetics, Illumina sequencing allows customized genotyping products to be created for any species of interest through the iSelect program.
Illumina's portfolio of sequencing systems generate the highest quality data available to analyze any genome for any species, and every genetic variant. A flexible, convenient workflow allows you to combine both short-insert paired-end and long-insert mate pair libraries to create an optimal level of detail and accuracy for any study. Go rapidly from DNA to data with minimal hands-on effort to produce meaningful results, reliably and efficiently.