A brief history of human disease genetics

M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

The link between circulating follicular helper T cells and autoimmunity

LSK Walker - Nature Reviews Immunology, 2022 - nature.com
Follicular helper T (TFH) cells provide help to B cells, supporting the formation of germinal
centres that allow affinity maturation of antibody responses. Although usually located in …

[HTML][HTML] An expanded view of complex traits: from polygenic to omnigenic

EA Boyle, YI Li, JK Pritchard - Cell, 2017 - cell.com
A central goal of genetics is to understand the links between genetic variation and disease.
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …

Genetic correlations of polygenic disease traits: from theory to practice

W Van Rheenen, WJ Peyrot, AJ Schork… - Nature Reviews …, 2019 - nature.com
The genetic correlation describes the genetic relationship between two traits and can
contribute to a better understanding of the shared biological pathways and/or the causality …

An atlas of genetic correlations across human diseases and traits

B Bulik-Sullivan, HK Finucane, V Anttila, A Gusev… - Nature …, 2015 - nature.com
Identifying genetic correlations between complex traits and diseases can provide useful
etiological insights and help prioritize likely causal relationships. The major challenges …

A gene-based association method for mapping traits using reference transcriptome data

ER Gamazon, HE Wheeler, KP Shah, SV Mozaffari… - Nature …, 2015 - nature.com
Genome-wide association studies (GWAS) have identified thousands of variants robustly
associated with complex traits. However, the biological mechanisms underlying these …

Detection and interpretation of shared genetic influences on 42 human traits

JK Pickrell, T Berisa, JZ Liu, L Ségurel, JY Tung… - Nature …, 2016 - nature.com
We performed a scan for genetic variants associated with multiple phenotypes by comparing
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …

Anti–tumor necrosis factor therapy and incidence of Parkinson disease among patients with inflammatory bowel disease

I Peter, M Dubinsky, S Bressman, A Park, C Lu… - JAMA …, 2018 - jamanetwork.com
Importance Despite established genetic and pathophysiologic links between inflammatory
bowel disease (IBD) and Parkinson disease (PD), clinical data supporting this association …

Bayesian test for colocalisation between pairs of genetic association studies using summary statistics

C Giambartolomei, D Vukcevic, EE Schadt… - PLoS …, 2014 - journals.plos.org
Genetic association studies, in particular the genome-wide association study (GWAS)
design, have provided a wealth of novel insights into the aetiology of a wide range of human …

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers

S Onengut-Gumuscu, WM Chen, O Burren… - Nature …, 2015 - nature.com
Genetic studies of type 1 diabetes (T1D) have identified 50 susceptibility regions,, finding
major pathways contributing to risk, with some loci shared across immune disorders,,. To …