Clinical complex disease research

Array and NGS methods enable global genetic analyses to improve complex disease identification

Clinical Complex Disease Research

The multifactorial nature of complex diseases requires flexible, accurate solutions to identify molecular targets. Illumina offers tools to understand the relationship between genotype and phenotype of complex disease, driving discovery of potential biomarkers and therapeutic targets to develop new treatments.

With the sensitivity, accuracy, and speed of array and NGS solutions, researchers can identify causative variants of complex diseases rapidly. Our complete solutions facilitate profiling of the genome, transcriptome, and epigenome, even with limited material available from clinical specimens.

Featured Stories

Progress for Patients with Rare and Undiagnosed Genetic Diseases
Progress for Patients with Rare and Undiagnosed Genetic Diseases

The Blue Cross Blue Shield Association (BCBSA) technology review organization, known as Evidence Street®, issues review supporting whole-genome sequencing.

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NGS Identifies Rare Disease Variants in Infants with Undiagnosed Disease
NGS Identifies Rare Disease Variants in Infants with Undiagnosed Disease

Landmark NGS study leads to a national clinical diagnostic exome sequencing platform in Singapore.

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Every Diagnosis Matters
Every Diagnosis Matters

Families facing rare diseases often spend years pinpointing the problem in solitude – until now.

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TruSight Sequencing Panels: Designed for translational research, these panels comprise oligo probes targeting genes and regions thought to be relevant for particular diseases or conditions.

TruSight One Sequencing Panels: Comprehensive panels targeting disease-associated regions of the exome with high analytical sensitivity and specificity.

TruSight HLA: Enables high-resolution, phase-resolved sequencing of 11 HLA loci.

TruSight Cardio: Designed to identify causal variants implicated in inherited cardiac conditions.

Kailos TargetRich PGxComplete: This enrichment-based targeted sequencing research panel covers 43 genes associated with responses to ~100 medications.

Kailos Blue Analytics provide sequencing quality assessment, alignment, and variant calling in output formats suitable for use with a variety of reporting solutions.

Polygenic Risk Scores Could Become Useful Tools in the Physician's Toolbox

Researchers perform large GWAS studies with the Global Screening Array to identify disease-associated DNA risk loci and develop PRSs for clinical validation.

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