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Complex Disease Research Using Next-Generation Sequencing (NGS)
Complex diseases are influenced by more than just your genes
Why are complex diseases difficult to predict? Many diseases and disorders are considered “complex” because they do not follow a predictive pattern of inheritance. These complex diseases are also sometimes referred to as multifactorial diseases, which means they are a result of a combination of multiple factors that contribute to the condition.
Not all of these factors are well understood. For example, some conditions like Alzheimer’s disease, hypertension or diabetes may have a genetic component that puts someone at a higher risk, but a subset of those individuals never develop the condition.
In addition to genetics, other contributing factors that influence a complex disease may be the environment, lifestyle and the interaction of these factors (Figure 1).
Complex diseases and disorders are typically categorized into the following:
- Neurodegenerative diseases and dementia—Alzheimer’s disease and lewy body dementia, Parkinson’s disease, and Huntington’s disease
- Behavioral and psychiatric disorders—autism spectrum disorder, schizophrenia, bipolar disorder, and depression
Click image to enlargeFigure 1. Complex diseases are influenced by more than just your genes. Other contributing factors may include environment, lifestyle, and the interaction of these factors.
- Cardiovascular diseases—high cholesterol, aorta disease and Marfan syndrome, congenital heart disease, coronary artery disease, heart disease, and heart failure
- Auto-immune diseases and immunological conditions—diabetes (type 1), rheumatoid arthritis (RA), Hashimoto’s thyroiditis, allergy, asthma, multiple sclerosis (MS), systemic lupus erythematosus (SLE), inflammatory bowel disease (Crohn’s disease and ulcerative colitis)
- Metabolic disorders—insulin resistance from type 2 diabetes, hypertension, and abnormal cholesterol
- Cancer
Targeted NGS is a suitable tool for complex disease research
Many genetic analysis solutions are limited to providing genetic information about a given disease. Because complex diseases are influenced by more than genetics, multiple technologies are often required to uncover additional information about the environmental and lifestyle causes.
With targeted NGS, one technology can help you research genetics and beyond:
- Genetics—research inherited genetic factors using exome or targeted panels
- Lifestyle—detect how gene changes affect global expression patterns, assess methylation and small RNA epigenetic mechanisms that influence complex disease development and progression
- Environment—study the human microbiome, assess immune system and dysbiosis, understand immune repertoire, mechanisms and triggers, inflammatory response; identify potential biomarkers and investigate potential mechanisms for drug response
Ion Torrent targeted NGS solutions for complex disease research
Ion Torrent focused next-generation sequencing technology is a simple and scalable way to approach complex disease research. Our streamlined sample-to-answer workflow offers multi-dimensional analysis and makes it easy for any lab to bring NGS in house, regardless of your team’s current level of NGS expertise.
Whether you are performing targeted exome sequencing or studying the immune repertoire, our comprehensive solutions enable you to study multiple components of complex disease on a single NGS system.
Easily adopt targeted NGS for your lab:
- Simple, scalable and fast targeted NGS workflow
- Automation capabilities for minimal hands-on time
- Comprehensive portfolio of assays with flexibility to design your own
- Analysis tools for accurate, multi-dimensional analysis
Targeted NGS workflow
Go from DNA to data in less than 24 hours with ~45 minutes of hands-on time
Featured assays for complex disease research
Click image to enlarge
Featured solutions
Streamlined solution with complete informatics suite for accurate, multi-dimensional analysis to study the immune system’s role in complex diseases like rheumatoid arthritis and multiple sclerosis. Obtain deeper insights into the adaptive immune system with targeted NGS:
- Biomarker discovery and profiling
- Assess convergence
- Assess clonal expansion and evaluate clonal evolution
- Identify CDR3 somatic hypermutations
- Evaluate isotype abundance
- Vaccine efficacy research
Enabling NGS analysis and discovery of multi-biomarker types (fusions, insertion/deletions (indels), single nucleotide variants (SNV), and copy number variations(CNV)). The Oncomine assays are part of a streamlined end-to-end workflow that includes simple, scalable sequencing with a comprehensive informatics and reporting suite—designed for cancer research.
- Multi-dimensional analysis for deeper insights in the tumor microenvironment
- Characterize immune repertoire diversity for studies in the cancer immunity cycle
- Sensitivity required to detect cell-free DNA and cell-free RNA in research blood samples
Ion Torrent next-generation sequencing systems
Scalable targeted NGS to support small and large projects
The Ion GeneStudio S5 system is a scalable, targeted-NGS workhorse with wide application breadth and throughput capability.
Specimen to report in a single day with a hands-off, automated workflow*
The Genexus System is the first turnkey NGS solution that automates the specimen-to-report workflow and delivers results in a single day with just two user touchpoints.*