Advanced genomics can further your understanding of gene abnormalities associated with genetic diseases, and ultimately improve human health. Illumina genetic technologies and informatics provide a broad view of the human genome. We help you discover and apply relevant genomic information to genetic disorders. Our microarray and next-generation sequencing systems offer flexibility regardless of throughput needs. Our simple workflows and industry-leading data quality will answer your genetic disease questions faster and more efficiently.
Whole-genome, whole-exome, and targeted NGS methods each offer distinct advantages in the search for causative rare disease variants. Learn more about NGS methods and products for rare disease variant detection »
With Illumina NGS technologies, researchers can study the polygenic traits, gene-gene interactions, and gene-environment interactions associated with complex genetic disorders, improving our understanding of the causes associated with these debilitating diseases. Learn more about genomic solutions for detecting complex disease genetic variants »
Whole-exome sequencing and targeted resequencing are ideally suited for mitochondrial research, enabling a closer look at regions of the mitochondrial and nuclear DNA where causative gene variants associated with mitochondrial regulation and function are found. Learn more about using NGS to detect mitochondrial mutations »
Illumina's high-resolution chromosomal microarrays and next-generation sequencing technologies offer unique insight into constitutional genetic disorders. Learn more about methods for detecting chromosome aberrations »
Illumina sequencing by synthesis technology is transforming disease research.
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See how researchers use NGS technology to understand the biological underpinning of genetic disease.
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NGS can help find the underlying variant mechanisms(s) and provide insights into the genome, epigenome, and transcriptome.
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Rapidly detect disease variants by sequencing whole human genomes, exomes, and more.
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