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 …

PhenomeXcan: Mapping the genome to the phenome through the transcriptome

M Pividori, PS Rajagopal, A Barbeira, Y Liang… - Science …, 2020 - science.org
Large-scale genomic and transcriptomic initiatives offer unprecedented insight into complex
traits, but clinical translation remains limited by variant-level associations without biological …

[HTML][HTML] Testing and controlling for horizontal pleiotropy with probabilistic Mendelian randomization in transcriptome-wide association studies

Z Yuan, H Zhu, P Zeng, S Yang, S Sun, C Yang… - Nature …, 2020 - nature.com
Integrating results from genome-wide association studies (GWASs) and gene expression
studies through transcriptome-wide association study (TWAS) has the potential to shed light …

Mendelian randomization for causal inference accounting for pleiotropy and sample structure using genome-wide summary statistics

X Hu, J Zhao, Z Lin, Y Wang, H Peng… - Proceedings of the …, 2022 - National Acad Sciences
Mendelian randomization (MR) is a valuable tool for inferring causal relationships among a
wide range of traits using summary statistics from genome-wide association studies …

Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk

JG Pouget… - Human Molecular …, 2019 - academic.oup.com
Many immune diseases occur at different rates among people with schizophrenia compared
to the general population. Here, we evaluated whether this phenomenon might be explained …

[HTML][HTML] Simultaneous estimation of bi-directional causal effects and heritable confounding from GWAS summary statistics

L Darrous, N Mounier, Z Kutalik - Nature communications, 2021 - nature.com
Mendelian Randomisation (MR) is an increasingly popular approach that estimates the
causal effect of risk factors on complex human traits. While it has seen several extensions …

Association of economic status and educational attainment with posttraumatic stress disorder: a Mendelian randomization study

R Polimanti, A Ratanatharathorn, AX Maihofer… - JAMA network …, 2019 - jamanetwork.com
Importance There is a well-established negative association of educational attainment (EA)
and other traits related to cognitive ability with posttraumatic stress disorder (PTSD), but the …

Detecting shared genetic architecture among multiple phenotypes by hierarchical clustering of gene-level association statistics

MR McGuirl, SP Smith, B Sandstede… - Genetics, 2020 - academic.oup.com
McGuirl et al. present a new method, Ward clustering to identify Internal Node branch length
outliers using Gene Scores (WINGS), for identifying shared genetic architecture among …

[PDF][PDF] MR-APSS: a unified approach to Mendelian Randomization accounting for pleiotropy and sample structure using genome-wide summary statistics

X Hu, J Zhao, Z Lin, Y Wang, H Peng, H Zhao, X Wan… - BioRxiv, 2021 - scholar.archive.org
Inferring the causal relationship between a risk factor (exposure) and a phenotype of interest
14 (outcome) is essential in biomedical research and social science [1]. Although …

Coding and regulatory variants affect serum protein levels and common disease

V Emilsson, V Gudmundsdottir, A Gudjonsson… - bioRxiv, 2020 - biorxiv.org
Circulating proteins are prognostic for human outcomes including cancer, heart failure, brain
trauma and brain amyloid plaque burden. A deep serum proteome survey recently revealed …