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Sequencing-based studies are emerging as a major tool for genetic association studies of complex diseases. These studies pose great challenges to the traditional statistical methods (e.g., single-locus analyses based on regression methods)…

Methodology · Statistics 2025-08-18 Changshuai Wei , Qing Lu

When testing for the association of a single SNP with a phenotypic response, one usually considers an additive genetic model, assuming that the mean of of the response for the heterozygous state is the average of the means for the two…

Methodology · Statistics 2025-01-07 Dominic Edelmann , Fernando Castro-Prado , Jelle J. Goeman

The recent development of artificial intelligence (AI) technology, especially the advance of deep neural network (DNN) technology, has revolutionized many fields. While DNN plays a central role in modern AI technology, it has been rarely…

Machine Learning · Statistics 2023-12-07 Tingting Hou , Chang Jiang , Qing Lu

Testing a global null is a canonical problem in statistics and has a wide range of applications. In view of the fact that no uniformly most powerful test exists, prior and/or domain knowledge are commonly used to focus on a certain class of…

Methodology · Statistics 2024-01-09 Yaowu Liu , Zhonghua Liu , Xihong Lin

High-dimensional phenotypes hold promise for richer findings in association studies, but testing of several phenotype traits aggravates the grand challenge of association studies, that of multiple testing. Several methods have recently been…

Methodology · Statistics 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

With the advance of high-throughput sequencing technologies, it has become feasible to investigate the influence of the entire spectrum of sequencing variations on complex human diseases. Although association studies utilizing the new…

Methodology · Statistics 2025-08-19 Ming Li , Zihuai He , Min Zhang , Xiaowei Zhan , Changshuai Wei , Robert C Elston , Qing Lu

Genetic association study is an essential step to discover genetic factors that are associated with a complex trait of interest. In this paper we present a novel generalized quasi-likelihood score (GQLS) test that is suitable for a study…

Applications · Statistics 2011-11-24 Zeny Feng , William W. L. Wong , Xin Gao , Flavio Schenkel

With advancements in next generation sequencing technology, a massive amount of sequencing data are generated, offering a great opportunity to comprehensively investigate the role of rare variants in the genetic etiology of complex…

Methodology · Statistics 2025-08-18 Changshuai Wei , Ming Li , Zihuai He , Olga Vsevolozhskaya , Daniel J. Schaid , Qing Lu

Converging evidence suggests that common complex diseases with the same or similar clinical manifestations could have different underlying genetic etiologies. While current research interests have shifted toward uncovering rare variants and…

Methodology · Statistics 2025-08-18 Changshuai Wei , Robert C. Elston , Qing Lu

We introduce the Generalized Turing Test (GTT), a formal framework for comparing the capabilities of arbitrary agents via indistinguishability. For agents A and B, we define the Turing comparator A $\geq$ B to hold if B, acting as a…

Artificial Intelligence · Computer Science 2026-05-12 Daniel Mitropolsky , Susan S. Hong , Riccardo Neumarker , Emanuele Rimoldi , Tomaso Poggio

Despite significant progress in dissecting the genetic architecture of complex diseases by genome-wide association studies (GWAS), the signals identified by association analysis may not have specific pathological relevance to diseases so…

Genomics · Quantitative Biology 2019-07-19 Rong Jiao , Xiangning Chen , Eric Boerwinkle , Momiao Xiong

Joint analysis of multiple phenotypes can increase statistical power in genetic association studies. Principal component analysis, as a popular dimension reduction method, especially when the number of phenotypes is high-dimensional, has…

Applications · Statistics 2018-06-18 Zhonghua Liu , Xihong Lin

Genetic data are frequently categorical and have complex dependence structures that are not always well understood. For this reason, clustering and classification based on genetic data, while highly relevant, are challenging statistical…

Methodology · Statistics 2016-06-13 Gabriela Bettella Cybis , Marcio Valk , Silvia Regina Costa Lopes

The similarity between objects is significant in a broad range of areas. While similarity can be measured using off-the-shelf distance functions, they may fail to capture the inherent meaning of similarity, which tends to depend on the…

Quantum Physics · Physics 2022-01-10 Santosh Kumar Radha , Casey Jao

The objective of a genome-wide association study (GWAS) is to associate subsequences of individuals' genomes to the observable characteristics called phenotypes (e.g., high blood pressure). Motivated by the GWAS problem, in this paper we…

Information Theory · Computer Science 2020-10-15 Behrooz Tahmasebi , Mohammad Ali Maddah-Ali , Seyed Abolfazl Motahari

Discovering causal genetic variants from large genetic association studies poses many difficult challenges. Assessing which genetic markers are involved in determining trait status is a computationally demanding task, especially in the…

Genomics · Quantitative Biology 2015-04-09 Andrew L. Beam , Alison Motsinger-Reif , Jon Doyle

Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown. Human complex diseases are likely influenced by…

Methodology · Statistics 2014-05-27 Zihuai He , Min Zhang , Xiaowei Zhan , Qing Lu

Strong mixing property holds for a broad class of linear and nonlinear time series models such as ARMA and GARCH models. In this article we study correlation structure of strong mixing sequences, and some asymptotic properties are…

Statistics Theory · Mathematics 2012-03-02 Fatemeh Azizzadeh , Saeid Rezakhah

The test of independence is a crucial component of modern data analysis. However, traditional methods often struggle with the complex dependency structures found in high-dimensional data. To overcome this challenge, we introduce a novel…

Methodology · Statistics 2024-09-13 Mingshuo Liu , Doudou Zhou , Hao Chen

Genome-wide association studies generate very large datasets that require scalable analysis algorithms. In this report we describe the GEDI software package, which implements efficient algorithms for performing several common tasks in the…

Data Structures and Algorithms · Computer Science 2016-09-08 Justin Kennedy , Ion I. Mandoiu , Bogdan Pasaniuc
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