Related Experiment Video
Updated: Feb 26, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Integrative Approaches to Understanding the Pathogenic Role of Genetic Variation in Rheumatic Diseases
Vincent A Laufer1, Jake Y Chen2, Carl D Langefeld3
1Division of Clinical Immunology and Rheumatology, School of Medicine, University of Alabama at Birmingham, 1720 2nd Avenue South, SHEL 236, Birmingham, AL 35294-2182, USA.
Abstract:
The use of high-throughput omics may help to understand the contribution of genetic variants to the pathogenesis of rheumatic diseases. We discuss the concept of missing heritability: that genetic variants do not explain the heritability of rheumatoid arthritis and related rheumatologic conditions. In addition to an overview of how integrative data analysis can lead to novel insights into mechanisms of rheumatic diseases, we describe statistical approaches to prioritizing genetic variants for future functional analyses. We illustrate how analyses of large datasets provide hope for improved approaches to the diagnosis, treatment, and prevention of rheumatic diseases.
Related Concept Videos
Principles of Pharmacogenetics: Types of Genetic Variants
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Rheumatic Heart Disease I: Introduction
Pharmacogenomics: Identification of New Drug Targets
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

