Understanding the function of regulatory DNA interactions in the interpretation of non-coding GWAS variants

W Zhong, W Liu, J Chen, Q Sun, M Hu… - Frontiers in cell and …, 2022 - frontiersin.org
Genome-wide association studies (GWAS) have identified a vast number of variants
associated with various complex human diseases and traits. However, most of these GWAS …

Scalable approaches for functional analyses of whole-genome sequencing non-coding variants

PP Kuksa, E Greenfest-Allen, J Cifello… - Human Molecular …, 2022 - academic.oup.com
Non-coding genetic variants outside of protein-coding genome regions play an important
role in genetic and epigenetic regulation. It has become increasingly important to …

DeepGWAS: Enhance GWAS Signals for Neuropsychiatric Disorders via Deep Neural Network

Y Li, J Wen, G Li, J Chen, Q Sun, W Liu… - Research …, 2023 - pmc.ncbi.nlm.nih.gov
Genetic dissection of neuropsychiatric disorders can potentially reveal novel therapeutic
targets. While genome-wide association studies (GWAS) have tremendously advanced our …

MagicalRsq: Machine-learning-based genotype imputation quality calibration

Q Sun, Y Yang, JD Rosen, MZ Jiang, J Chen… - The American Journal of …, 2022 - cell.com
Whole-genome sequencing (WGS) is the gold standard for fully characterizing genetic
variation but is still prohibitively expensive for large samples. To reduce costs, many studies …

Gene Association Analysis of Quantitative Trait Based on Functional Linear Regression Model with Local Sparse Estimator

J Wang, F Zhou, C Li, N Yin, H Liu, B Zhuang, Q Huang… - Genes, 2023 - mdpi.com
Functional linear regression models have been widely used in the gene association
analysis of complex traits. These models retain all the genetic information in the data and …

Increasing Diversity with Statistical Methods in Genetics Studies

Q Sun - 2024 - search.proquest.com
With the development of genoty** and sequencing technologies, genetics data have
become increasingly available, making genetic studies unprecedentedly flourishing …

RetroFun‐RVS: A Retrospective Family‐Based Framework for Rare Variant Analysis Incorporating Functional Annotations

L Mangnier, I Ruczinski, J Ricard… - Genetic …, 2025 - Wiley Online Library
ABSTRACT A large proportion of genetic variations involved in complex diseases are rare
and located within noncoding regions, making the interpretation of underlying biological …