Whole-genome genotyping provides an overview of the entire genome, enabling genome-wide discoveries and associations. Using high-throughput next-generation sequencing (NGS) and microarray technologies, researchers can obtain a deeper understanding of the genome, providing insight into the functional consequences of genetic variation.
Microarray-based genome-wide association studies (GWAS) have been the most common approach for identifying disease associations across the whole genome. While whole-genome microarrays can interrogate over 4 million markers per sample, NGS-based whole-genome sequencing provides a comprehensive base-by-base method for interrogating the 3.2 billion bases of the human genome. Each technology offers unique advantages in price, data analysis, and throughput depending on particular study goals.
Illumina is providing sequencing for a UK-wide study led by Genomics England, designed to compare the genomes of severely and mildly ill COVID-19 patients.Read Article
Researchers use an Illumina array to identify responder genotypes in a cholesterol drug trial.Read Interview
A collaborative genotyping effort identifies disease-associated SNP markers prevalent in the Hispanic population.Read Interview
While arrays are effective for assaying known variants, they are limited in detecting novel variants. NGS is an unbiased approach to variant detection that evaluates all loci and alleles regardless of prior expectations. Whole-genome and whole-exome sequencing are common approaches for finding causal variants for rare or complex disease studies.
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Novel variants discovered using NGS can be used to generate a completely custom array, or added as additional content to an existing whole-genome genotyping array for large sample screening studies. Design custom panels targeting specific traits and/or genes of interest or for species and populations not available as standard panels.Explore Custom Genotyping
High through-put microarrays help labs identify common genetic variations among large cohorts for population-scale genotyping studies. Learn more about high through-put genotyping.
Screen large sample numbers quickly to find causal variants associated with complex diseases. Learn more about complex disease research.
Enhance the value of crops and herds with screening and discovery tools that aid in breeding decisions. Learn more about plant and animal genotyping.