From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases

E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …

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 …

Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets

JH Zhao, D Stacey, N Eriksson… - Nature …, 2023 - nature.com
Circulating proteins have important functions in inflammation and a broad range of diseases.
To identify genetic influences on inflammation-related proteins, we conducted a genome …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

New insights into the genetic etiology of Alzheimer's disease and related dementias

C Bellenguez, F Küçükali, IE Jansen, L Kleineidam… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

Single-cell eQTL map** identifies cell type–specific genetic control of autoimmune disease

S Yazar, J Alquicira-Hernandez, K Wing, A Senabouth… - Science, 2022 - science.org
The human immune system displays substantial variation between individuals, leading to
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease

DP Wightman, IE Jansen, JE Savage, AA Shadrin… - Nature …, 2021 - nature.com
Late-onset Alzheimer's disease is a prevalent age-related polygenic disease that accounts
for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying …

A compendium of uniformly processed human gene expression and splicing quantitative trait loci

N Kerimov, JD Hayhurst, K Peikova, JR Manning… - Nature …, 2021 - nature.com
Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …

[HTML][HTML] A disease-associated gene desert directs macrophage inflammation through ETS2

CT Stankey, C Bourges, LM Haag, T Turner-Stokes… - Nature, 2024 - nature.com
Increasing rates of autoimmune and inflammatory disease present a burgeoning threat to
human health. This is compounded by the limited efficacy of available treatments and high …

Inferring gene regulatory networks from single-cell multiome data using atlas-scale external data

Q Yuan, Z Duren - Nature Biotechnology, 2024 - nature.com
Existing methods for gene regulatory network (GRN) inference rely on gene expression data
alone or on lower resolution bulk data. Despite the recent integration of chromatin …