High-throughput genomic technologies enable researchers to screen large sample numbers quickly to find disease-related causal variants. Many single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) are associated with disease.
Causal variant identification can lead to further studies of gene targets to characterize disease mechanisms.
Large-scale investigations of the genome can be performed using arrays or next-generation sequencing (NGS). These surveys can generate statistically significant disease associations and identify potential causal variants of interest for future studies.
Large-scale genome-wide association studies (GWAS) using arrays enable you to interrogate tens of thousands of samples at one time. GWAS are effective for identifying common variants associated with disease, uncovering multiple genes for further study.
While arrays are effective for finding common variants, they are limited in detecting rare variants. Whole-genome and whole-exome sequencing are common approaches for finding causal variants in rare or complex disease cases. Sequencing individuals or trios is a sensitive, unbiased approach to variant detection that can potentially reveal more variants than array-based approaches.
CNVs are genomic alterations that result in an abnormal number of copies of one or more genes. They are usually caused by structural rearrangements. Like SNPs, certain CNVs have been associated with disease susceptibility.
Array-based approaches for detecting de novo CNVs (not present in or transmitted by either parent) offer efficient and reliable large-scale analysis. You can profile genomic variations such as amplifications, deletions, rearrangements, and copy-neutral loss of heterozygosity.
Illumina offers several types of array solutions for CNV detection, to facilitate causal variant discovery:
While efficient for large CNV detection, genotyping arrays are less sensitive for small CNVs (< 50 kilobases). NGS offers base-pair resolution that can detect the small CNVs missed by arrays. This knowledge can be useful for studies of missing heritability in complex diseases. The high resolution of sequencing complements the high throughput of arrays, enabling a complete view of the genome.
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Genome-wide association studies (GWAS) enable researchers to scan entire genomes of large numbers of subjects quickly in order to find disease-associated variants.