After asthma: redefining airways diseases
Executive summary Asthma is responsible for considerable global morbidity and health-care
costs. Substantial progress was made against key outcomes such as hospital admissions …
costs. Substantial progress was made against key outcomes such as hospital admissions …
Recent developments in Mendelian randomization studies
Abstract Purpose of Review Mendelian randomization (MR) is a strategy for evaluating
causality in observational epidemiological studies. MR exploits the fact that genotypes are …
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 …
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
Interpreting type 1 diabetes risk with genetics and single-cell epigenomics
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 …
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …
Single-cell DNA methylation and 3D genome architecture in the human brain
Delineating the gene-regulatory programs underlying complex cell types is fundamental for
understanding brain function in health and disease. Here, we comprehensively examined …
understanding brain function in health and disease. Here, we comprehensively examined …
Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians
Mendelian randomisation uses genetic variation as a natural experiment to investigate the
causal relations between potentially modifiable risk factors and health outcomes in …
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 …
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
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 …
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
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 …
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
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 …
and has been reproducibly associated with future cardio-metabolic health outcomes. In …