After asthma: redefining airways diseases

ID Pavord, R Beasley, A Agusti, GP Anderson, E Bel… - The Lancet, 2018 - thelancet.com
Executive summary Asthma is responsible for considerable global morbidity and health-care
costs. Substantial progress was made against key outcomes such as hospital admissions …

Recent developments in Mendelian randomization studies

J Zheng, D Baird, MC Borges, J Bowden… - Current epidemiology …, 2017 - Springer
Abstract Purpose of Review Mendelian randomization (MR) is a strategy for evaluating
causality in observational epidemiological studies. MR exploits the fact that genotypes are …

The GTEx Consortium atlas of genetic regulatory effects across human tissues

GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …

Interpreting type 1 diabetes risk with genetics and single-cell epigenomics

J Chiou, RJ Geusz, ML Okino, JY Han, M Miller… - Nature, 2021 - nature.com
Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …

Single-cell DNA methylation and 3D genome architecture in the human brain

W Tian, J Zhou, A Bartlett, Q Zeng, H Liu, RG Castanon… - Science, 2023 - science.org
Delineating the gene-regulatory programs underlying complex cell types is fundamental for
understanding brain function in health and disease. Here, we comprehensively examined …

Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians

NM Davies, MV Holmes, GD Smith - bmj, 2018 - bmj.com
Mendelian randomisation uses genetic variation as a natural experiment to investigate the
causal relations between potentially modifiable risk factors and health outcomes in …

Genetic effects on gene expression across human tissues

GTEx Consortium Lead analysts: Aguet François 1 … - Nature, 2017 - nature.com
Abstract Characterization of the molecular function of the human genome and its variation
across individuals is essential for identifying the cellular mechanisms that underlie human …

Mendelian randomization accounting for correlated and uncorrelated pleiotropic effects using genome-wide summary statistics

J Morrison, N Knoblauch, JH Marcus, M Stephens… - Nature …, 2020 - nature.com
Mendelian randomization (MR) is a valuable tool for detecting causal effects by using
genetic variant associations. Opportunities to apply MR are growing rapidly with the …

Constrained maximum likelihood-based Mendelian randomization robust to both correlated and uncorrelated pleiotropic effects

H Xue, X Shen, W Pan - The American Journal of Human Genetics, 2021 - cell.com
With the increasing availability of large-scale GWAS summary data on various complex traits
and diseases, there have been tremendous interests in applications of Mendelian …

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

NM Warrington, RN Beaumont, M Horikoshi, FR Day… - Nature …, 2019 - nature.com
Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors,
and has been reproducibly associated with future cardio-metabolic health outcomes. In …