Complex Disease: From Variants to Function with Multiomics

Genome-wide association studies have identified thousands of variants associated with different diseases and complex traits. However, going from statistical associations to true insight into mechanisms of disease or biology remains an incredible challenge for the field. As most genome-wide significant variants are found in non-coding regions, linking these SNPs to genes or pathways is not trivial. In this session, hear from three panelists who will share how we can begin to understand what variants mean physiologically through a multiomics approach, using different techniques from genomics and epigenetics to transcriptome sequencing.

With multiomics, we can start to discover what cell types are affected, what pathways are modulated, and how that relates to physiology and disease. Multiomic approaches are capable of testing thousands of variants and can help to prioritize functional SNPs and further our understanding about the genes and the regulatory pathways that are relevant for specific phenotypes. Learn how powerful combinations of high-throughput experimental assays, single-cell approaches, and computational analyses are accelerating the ability to link variants to function, and by extension, link genotype to phenotype.

Isabel Castanho, PhD
Postdoctoral Research Fellow
Beth Israel Deaconess Medical Center (BIDMC), Department of Pathology; Harvard Medical School

Jennifer Smith, PhD, MPH
Associate Professor of Epidemiology and Survey Research
University of Michigan

Laura Yerges-Armstrong, PhD
Vice President Computational Genetics
Variant Bio

M-GL-00613