15 years of GWAS discovery: realizing the promise

A Abdellaoui, L Yengo, KJH Verweij… - The American Journal of …, 2023 - cell.com
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …

Mendelian randomization

E Sanderson, MM Glymour, MV Holmes… - Nature Reviews …, 2022 - nature.com
Mendelian randomization (MR) is a term that applies to the use of genetic variation to
address causal questions about how modifiable exposures influence different outcomes …

Plasma proteomic associations with genetics and health in the UK Biobank

BB Sun, J Chiou, M Traylor, C Benner, YH Hsu… - Nature, 2023 - nature.com
Abstract The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium
characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we …

Strengthening the reporting of observational studies in epidemiology using mendelian randomisation (STROBE-MR): explanation and elaboration

VW Skrivankova, RC Richmond, BAR Woolf… - bmj, 2021 - bmj.com
Mendelian randomisation (MR) studies allow a better understanding of the causal effects of
modifiable exposures on health outcomes, but the published evidence is often hampered by …

Mendelian randomization: concepts and scope

RC Richmond, GD Smith - Cold Spring …, 2022 - perspectivesinmedicine.cshlp.org
Mendelian randomization (MR) is a method of studying the causal effects of modifiable
exposures (ie, potential risk factors) on health, social, and economic outcomes using genetic …

Mendelian randomization for cardiovascular diseases: principles and applications

SC Larsson, AS Butterworth… - European heart journal, 2023 - academic.oup.com
Large-scale genome-wide association studies conducted over the last decade have
uncovered numerous genetic variants associated with cardiometabolic traits and risk factors …

From target discovery to clinical drug development with human genetics

K Trajanoska, C Bhérer, D Taliun, S Zhou, JB Richards… - Nature, 2023 - nature.com
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …

Guidelines for performing Mendelian randomization investigations: update for summer 2023

S Burgess, GD Smith, NM Davies… - Wellcome open …, 2023 - pmc.ncbi.nlm.nih.gov
This paper provides guidelines for performing Mendelian randomization investigations. It is
aimed at practitioners seeking to undertake analyses and write up their findings, and at …

Advancing the use of genome-wide association studies for drug repurposing

WR Reay, MJ Cairns - Nature Reviews Genetics, 2021 - nature.com
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …

[HTML][HTML] Using genetic association data to guide drug discovery and development: review of methods and applications

S Burgess, AM Mason, AJ Grant, EAW Slob… - The American Journal of …, 2023 - cell.com
Evidence on the validity of drug targets from randomized trials is reliable but typically
expensive and slow to obtain. In contrast, evidence from conventional observational …