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SNP Discovery and Structural Variation Analysis

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.

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Cytogenetic Analysis

Structural variability is a substantial source of genetic varia­tion that has a major influence on phenotypic variation. Cytogenetic analysis allows researchers to profile chromosomal aberrations such as amplifications, deletions, rearrangements, point mutations, copy number changes, and copy-neutral loss of heterozygosity (LOH) events.

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