Recent advances and challenges of rare variant association analysis in the biobank sequencing era

W Chen, BJ Coombes, NB Larson - Frontiers in genetics, 2022 - frontiersin.org
Causal variants for rare genetic diseases are often rare in the general population. Rare
variants may also contribute to common complex traits and can have much larger per-allele …

Early adversity as the prototype gene× environment interaction in mental disorders?

J Martins, N Yusupov, EB Binder, TM Brückl… - Pharmacology …, 2022 - Elsevier
Childhood adversity (CA) as a significant stressor has consistently been associated with the
development of mental disorders. The interaction between CA and genetic variants has …

[HTML][HTML] A fast and accurate method for genome-wide time-to-event data analysis and its application to UK Biobank

W Bi, LG Fritsche, B Mukherjee, S Kim, S Lee - The American Journal of …, 2020 - cell.com
With increasing biobanking efforts connecting electronic health records and national
registries to germline genetics, the time-to-event data analysis has attracted increasing …

Evaluation of shared genetic susceptibility to high and low myopia and hyperopia

JWL Tideman, O Pärssinen, AEG Haarman… - JAMA …, 2021 - jamanetwork.com
Importance Uncertainty currently exists about whether the same genetic variants are
associated with susceptibility to low myopia (LM) and high myopia (HM) and to myopia and …

Efficient mixed model approach for large-scale genome-wide association studies of ordinal categorical phenotypes

W Bi, W Zhou, R Dey, B Mukherjee, JN Sampson… - The American Journal of …, 2021 - cell.com
In genome-wide association studies, ordinal categorical phenotypes are widely used to
measure human behaviors, satisfaction, and preferences. However, because of the lack of …

UK Biobank whole-exome sequence binary phenome analysis with robust region-based rare-variant test

Z Zhao, W Bi, W Zhou, P VandeHaar… - The American Journal of …, 2020 - cell.com
In biobank data analysis, most binary phenotypes have unbalanced case-control ratios, and
this can cause inflation of type I error rates. Recently, a saddle point approximation (SPA) …

GEM: scalable and flexible gene–environment interaction analysis in millions of samples

KE Westerman, DT Pham, L Hong, Y Chen… - …, 2021 - academic.oup.com
Motivation Gene–environment interaction (GEI) studies are a general framework that can be
used to identify genetic variants that modify the effects of environmental, physiological …

Gene–environment interactions in human health

E Herrera-Luis, K Benke, H Volk… - Nature Reviews …, 2024 - nature.com
Gene–environment interactions (G× E), the interplay of genetic variation with environmental
factors, have a pivotal impact on human complex traits and diseases. Statistically, G× E can …

Statistical methods for gene–environment interaction analysis

J Miao, Y Wu, Q Lu - Wiley Interdisciplinary Reviews …, 2024 - Wiley Online Library
Most human complex phenotypes result from multiple genetic and environmental factors and
their interactions. Understanding the mechanisms by which genetic and environmental …

Efficient gene–environment interaction tests for large biobank‐scale sequencing studies

X Wang, E Lim, CT Liu, YJ Sung, DC Rao… - Genetic …, 2020 - Wiley Online Library
Complex human diseases are affected by genetic and environmental risk factors and their
interactions. Gene–environment interaction (GEI) tests for aggregate genetic variant sets …