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Updated: Jun 17, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
Published on: August 21, 2016
Identification of novel putative rheumatoid arthritis susceptibility genes via analysis of rare variants
Andrew P Morris1, Eleftheria Zeggini, Cecilia M Lindgren
1Genetic and Genomic Epidemiology Unit, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK. amorris@well.ox.ac.uk.
Abstract:
Established loci for rheumatoid arthritis (RA), including HLA-DRB1 and PTPN22, do not fully account for the genetic component of susceptibility to the disease. One possible source of as yet undiscovered susceptibility genes are those mediated through effects of rare variants. We present a novel method for gene-based genome-wide scans of whole-genome association (WGA) data to identify accumulations of rare variants associated with disease. We apply our method to WGA SNP genotype data obtained from 868 RA cases and 1194 controls. Our results highlight novel putative RA susceptibility genes that have not previously been identified in large-scale WGA studies.
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