Introduction to Genomic Methods for Complex Disease Research

Complex disease-associated variants are not limited to mutations in the DNA sequence. There are multiple levels of possible sources of variability including transcription and gene expression, and epigenetic modifications. Complex disease research requires the ability to interrogate the genomes, transcriptomes, and epigenomes of multiple individuals across populations to identify genes, gene networks, and pathways that underlie a complex trait. Illumina offers array and NGS solutions and collaborative expertise to support customer success.

Explore Popular Genomic Methods

Application	Method	Suggested Products
Common Variant Discovery	Whole-genome sequencing (WGS) WGS enables discovery of common variants associated with complex diseases.	Illumina DNA Prep
Common Variant Discovery	Human genotyping arrays Genome-wide genotyping arrays provide a cost-effective solution for common variant discovery through GWAS across and within diverse populations.	Global Screening Array Global Diversity Array Infinium OmniZhongHua-8 Kit Asian Screening Array Multi-Ethnic Global-8 Kit
Rare Variant Discovery	WGS WGS enables discovery of rare variants associated with complex diseases.	Illumina DNA Prep
Rare Variant Discovery	Whole-exome sequencing (WES) WES enables discovery of rare variants within gene coding regions.	Illumina DNA Prep with Enrichment
Variant Confirmation	Targeted genotyping arrays Targeted arrays enable variant discovery within a particular subset of complex diseases.	PsychArray Immunoarray
Variant Confirmation	Targeted sequencing Targeted sequencing enables gene variant confirmation as well as novel variant discovery in known genes.	AmpliSeq for Illumina Custom DNA Panel TruSight Cardio Sequencing Kit
Gene Expression/Differential Expression	Total RNA-Seq Total RNA sequencing enables whole-transcriptome analysis including coding and multiple forms of noncoding RNA.	TruSeq Stranded Total RNA
	mRNA-Seq mRNA sequencing enables analysis of coding RNA across the transcriptome for applications such as eQTL mapping.	TruSeq Stranded mRNA
	Single-Cell RNA-Seq Single-cell RNA sequencing enables whole-transciptome analysis of individual cells, revealing differential responses to environmental stimuli, molecular mechanisms of disease, and interactions in the immune response.	NextSeq 2000 System
Methylation Profiling	Methylation sequencing Whole-genome bisulfite sequencing (WGBS) and targeted methylation sequencing (Methyl-Seq) enable a deeper understanding of the methylome.	TruSeq Methyl Capture EPIC
Methylation Profiling	Methylation arrays Methylation arrays enable cost-effective DNA methylation analysis of coding and noncoding regulatory regions throughout the genome.	Infinium MethylationEPIC Kit
Chromatin Accessibility	ATAC-Seq Assay for Transposase-Accessible Chromatin using Sequencing (ATAC-Seq) enables interrogation of chromatin accessibility genome-wide.	Illumina Tagment DNA TDE1 Enzyme and Buffer Kits
Transcription Factor Binding	ChIP-Seq Chromatin immunoprecipitation sequencing (ChIP-Seq) enables identification of genome-wide DNA binding sites for transcription factors and other proteins.	TruSeq ChIP Library Prep Kit

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Single-Cell Sequencing Workflow: Critical Steps and Considerations

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Gene Expression Profiling with RNA-Seq

RNA sequencing is empowering transcriptomics like never before. Get the complete picture of gene expression profiling here.

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Complex Disease Research Methods