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Genome-wide association studies (GWAS) have emerged as a rich source of genetic clues into disease biology, and they have revealed strong genetic correlations among many diseases and traits. Some of these genetic correlations may reflect…

Methodology · Statistics 2018-11-28 Luke J. O'Connor , Alkes L. Price

High-throughput genetic and epigenetic data are often screened for associations with an observed phenotype. For example, one may wish to test hundreds of thousands of genetic variants, or DNA methylation sites, for an association with…

Methodology · Statistics 2017-10-20 Eric F. Lock , David B. Dunson

Annotations of gene structures and regulatory elements can inform genome-wide association studies (GWAS). However, choosing the relevant annotations for interpreting an association study of a given trait remains challenging. We describe a…

Genomics · Quantitative Biology 2014-04-24 Joseph K. Pickrell

Identifying disease-indicative genes is critical for deciphering disease mechanisms and has attracted significant interest in biomedical research. Spatial transcriptomics offers unprecedented insights for the detection of disease-specific…

Methodology · Statistics 2024-09-05 Qicheng Zhao , Qihuang Zhang

Identifying genes that display spatial patterns is critical to investigating expression interactions within a spatial context and further dissecting biological understanding of complex mechanistic functionality. Despite the increase in…

Methodology · Statistics 2025-10-06 Mingcong Wu , Yang Li , Shuangge Ma , Mengyun Wu

While linear mixed model (LMM) has shown a competitive performance in correcting spurious associations raised by population stratification, family structures, and cryptic relatedness, more challenges are still to be addressed regarding the…

Machine Learning · Computer Science 2023-02-15 Wenting Ye , Xiang Liu , Tianwei Yue , Wenping Wang

Background and objective: Diabetes is a chronic pathology which is affecting more and more people over the years. It gives rise to a large number of deaths each year. Furthermore, many people living with the disease do not realize the…

Community detection seeks to recover mesoscopic structure from network data that may be binary, count-valued, signed, directed, weighted, or multilayer. The stochastic block model (SBM) explains such structure by positing a latent partition…

Statistics Theory · Mathematics 2026-01-07 Marios Papamichalis , Regina Ruane

Stochastic Block Models (SBMs) are a popular approach to modeling single real-world graphs. The key idea of SBMs is to partition the vertices of the graph into blocks with similar edge densities within, as well as between different blocks.…

Social and Information Networks · Computer Science 2024-12-23 Iiro Kumpulainen , Sebastian Dalleiger , Jilles Vreeken , Nikolaj Tatti

In genetic association studies, rare variants with extremely small allele frequency play a crucial role in complex traits, and the set-based testing methods that jointly assess the effects of groups of single nucleotide polymorphisms (SNPs)…

Methodology · Statistics 2020-03-13 Shonosuke Sugasawa , Hisashi Noma

Gene-gene and gene-environment interactions are widely believed to play significant roles in explaining the variability of complex traits. While substantial research exists in this area, a comprehensive statistical framework that addresses…

Methodology · Statistics 2026-02-18 Durba Bhattacharya , Sourabh Bhattacharya

Motivated by genetic association studies of pleiotropy, we propose here a Bayesian latent variable approach to jointly study multiple outcomes or phenotypes. The proposed method models both continuous and binary phenotypes, and it accounts…

Applications · Statistics 2012-11-08 Lizhen Xu , Radu V. Craiu , Lei Sun

Gene-gene interactions have long been recognized to be fundamentally important to understand genetic causes of complex disease traits. At present, identifying gene-gene interactions from genome-wide case-control studies is computationally…

Genomics · Quantitative Biology 2010-01-29 Xiang Wan , Can Yang , Qiang Yang , Hong Xue , Xiaodan Fan , Nelson L. S. Tang , Weichuan Yu

Species-sampling problems (SSPs) refer to a vast class of statistical problems calling for the estimation of (discrete) functionals of the unknown species composition of an unobservable population. A common feature of SSPs is their…

Methodology · Statistics 2024-02-13 Cecilia Balocchi , Federico Camerlenghi , Stefano Favaro

Motivated by the important problem of detecting association between genetic markers and binary traits in genome-wide association studies, we present a novel Bayesian model that establishes a hierarchy between markers and genes by defining…

Applications · Statistics 2016-06-22 Ian Johnston , Timothy Hancock , Hiroshi Mamitsuka , Luis Carvalho

Since the emergence of genome-wide association studies (GWASs), estimation of the narrow sense heritability explained by common single-nucleotide polymorphisms (SNPs) via linear mixed model approaches became widely used. As in most GWASs,…

Methodology · Statistics 2015-07-31 Najla Saad Elhezzani

Genome-wide association studies (GWA studies or GWAS) investigate the relationships between genetic variants such as single-nucleotide polymorphisms (SNPs) and individual traits. Recently, incorporating biological priors together with…

Machine Learning · Statistics 2017-09-13 Tao Yang , Paul Thompson , Sihai Zhao , Jieping Ye

The single nucleotide polymorphism (SNP) rs7903146 in the TCF7L2 gene has been determined as one of the strongest common genetic risk factors for Type 2 Diabetes (T2D). The location of the SNP in a non-coding region suggests a regulatory…

Biomolecules · Quantitative Biology 2025-11-19 Karthik Venuturimilli , Yang Ha

Network-based computational approaches to predict unknown genes associated with certain diseases are of considerable significance for uncovering the molecular basis of human diseases. In this paper, we proposed a kind of new…

Molecular Networks · Quantitative Biology 2018-11-14 Ke Hu , Jing-Bo Hu , Ju Xiang , Hui-Jia Li , Yan Zhang , Shi Chen , Chen-He Yi

Inference for the stochastic blockmodel is currently of burgeoning interest in the statistical community, as well as in various application domains as diverse as social networks, citation networks, brain connectivity networks…

Methodology · Statistics 2016-02-10 Shakira Suwan , Dominic S. Lee , Runze Tang , Daniel L. Sussman , Minh Tang , Carey E. Priebe
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