Validating disease-associated variants

Array and sequencing studies can help confirm causal variants and clarify their biological effects

Candidate Sequence Variant Validation

After a sequence variant is identified and associated with disease, the association and its biological effects must be confirmed. A variant may have various effects on protein structure, gene expression, and regulation, or it may have no effect. Array- and sequencing-based methods can help to determine exactly how a variant affects disease biology.

Understanding Variation Through eQTL Webinar Web Graphic
Understanding Variation Through eQTL Webinar

Common expression quantitative trait loci (eQTL) are powerful tools for understanding the genetic architecture of regulatory variation.

Fine mapping of genomic regions of interest can clarify the connection between a SNP and a disease. This can be done through targeted resequencing, or custom genotyping arrays designed by individual researchers or consortia. These approaches enable researchers to magnify regions of interest, avoid irrelevant regions of the genome, and conserve resources.

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Complex Disease Research

Learn how genomic technologies are introducing new avenues for understanding complex disease etiology on a molecular level.

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By characterizing the downstream effects of variants, researchers can better understand the molecular mechanisms of disease. Genomic variants do not always affect protein structure or function. In fact, many sequence variants regulate gene expression.

RNA Sequencing (RNA-Seq) offers many advantages for assessing how variants affect transcription and protein translation. An unbiased approach to understanding the transcriptome, RNA-Seq quantifies RNA activity and captures subtle gene expression changes.

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