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 …

The genetic basis of major depressive disorder

J Flint - Molecular psychiatry, 2023 - nature.com
The genetic dissection of major depressive disorder (MDD) ranks as one of the success
stories of psychiatric genetics, with genome-wide association studies (GWAS) identifying …

Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification

M Dapas, A Dunaif - Endocrine reviews, 2022 - academic.oup.com
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …

Status and prospects of genome‐wide association studies in plants

L Tibbs Cortes, Z Zhang, J Yu - The plant genome, 2021 - Wiley Online Library
Genome‐wide association studies (GWAS) have developed into a powerful and ubiquitous
tool for the investigation of complex traits. In large part, this was fueled by advances in …

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

E Mountjoy, EM Schmidt, M Carmona… - Nature …, 2021 - nature.com
Genome-wide association studies (GWASs) have identified many variants associated with
complex traits, but identifying the causal gene (s) is a major challenge. In the present study …

Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

[HTML][HTML] Statistical methods for Mendelian randomization in genome-wide association studies: a review

FJ Boehm, X Zhou - Computational and structural biotechnology journal, 2022 - Elsevier
Genome-wide association studies have yielded thousands of associations for many
common diseases and disease-related complex traits. The identified associations made it …

The personal and clinical utility of polygenic risk scores

A Torkamani, NE Wineinger, EJ Topol - Nature Reviews Genetics, 2018 - nature.com
Initial expectations for genome-wide association studies were high, as such studies
promised to rapidly transform personalized medicine with individualized disease risk …

Improving reporting standards for polygenic scores in risk prediction studies

H Wand, SA Lambert, C Tamburro, MA Iacocca… - Nature, 2021 - nature.com
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association
studies, can bridge the gap between initial discovery efforts and clinical applications for the …