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 …
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 …
centres that allow affinity maturation of antibody responses. Although usually located in …
[HTML][HTML] An expanded view of complex traits: from polygenic to omnigenic
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 …
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 …
contribute to a better understanding of the shared biological pathways and/or the causality …
An atlas of genetic correlations across human diseases and traits
Identifying genetic correlations between complex traits and diseases can provide useful
etiological insights and help prioritize likely causal relationships. The major challenges …
etiological insights and help prioritize likely causal relationships. The major challenges …
A gene-based association method for mapping traits using reference transcriptome data
Genome-wide association studies (GWAS) have identified thousands of variants robustly
associated with complex traits. However, the biological mechanisms underlying these …
associated with complex traits. However, the biological mechanisms underlying these …
Detection and interpretation of shared genetic influences on 42 human traits
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 …
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 …
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
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 …
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
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 …
major pathways contributing to risk, with some loci shared across immune disorders,,. To …