A survey of genome-wide association studies, polygenic scores and UK Biobank highlights resources for autoimmune disease genetics.

ABSTRACT: Autoimmune diseases share a general mechanism of auto-antigens harming tissues. Still. they are phenotypically diverse, with genetic as well as environmental factors contributing to their etiology at varying degrees. Associated genomic loci and variants have been identified in numerous genome-wide association studies (GWAS), whose results are increasingly used for polygenic scores (PGS) that are used to predict disease risk. At the same time, a technological shift from genotyping arrays to next generation sequencing (NGS) is ongoing. NGS allows the identification of virtually all - including rare - genetic variants, which in combination with methodological developments promises to improve the prediction of disease risk and elucidate molecular mechanisms underlying disease. Here we review c

SUBMITTER: Saurabh R 

PROVIDER: S-EPMC9388859 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature