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 …

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 …

[HTML][HTML] Statistical significance: p value, 0.05 threshold, and applications to radiomics—reasons for a conservative approach

G Di Leo, F Sardanelli - European radiology experimental, 2020 - Springer
Here, we summarise the unresolved debate about p value and its dichotomisation. We
present the statement of the American Statistical Association against the misuse of statistical …

From genome-wide associations to candidate causal variants by statistical fine-mapping

DJ Schaid, W Chen, NB Larson - Nature Reviews Genetics, 2018 - nature.com
Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …

[HTML][HTML] Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations

RE Peterson, K Kuchenbaecker, RK Walters, CY Chen… - Cell, 2019 - cell.com
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …

Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis

AD Grotzinger, TT Mallard, WA Akingbuwa, HF Ip… - Nature …, 2022 - nature.com
We interrogate the joint genetic architecture of 11 major psychiatric disorders at
biobehavioral, functional genomic and molecular genetic levels of analysis. We identify four …

[HTML][HTML] Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

K Suzuki, K Hatzikotoulas, L Southam, HJ Taylor, X Yin… - Nature, 2024 - nature.com
Abstract Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse
pathophysiological processes, and molecular mechanisms that are often specific to cell …

[HTML][HTML] Genome-wide analyses identify KIF5A as a novel ALS gene

A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri… - Neuron, 2018 - cell.com
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …

Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

RK Walters, R Polimanti, EC Johnson… - Nature …, 2018 - nature.com
Liability to alcohol dependence (AD) is heritable, but little is known about its complex
polygenic architecture or its genetic relationship with other disorders. To discover loci …

Clinical utility of polygenic risk scores for coronary artery disease

D Klarin, P Natarajan - Nature Reviews Cardiology, 2022 - nature.com
Over the past decade, substantial progress has been made in the discovery of alleles
contributing to the risk of coronary artery disease. In addition to providing causal insights into …