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Motivation: Genome-wide association studies (GWAS) have successfully identified thousands of genetic risk loci for complex traits and diseases. Most of these GWAS loci lie in regulatory regions of the genome and the gene through which each…

Quantitative Methods · Quantitative Biology 2022-10-31 Leonardo Martini , Adriano Fazzone , Michele Gentili , Luca Becchetti , Brian Hobbs

Where causal SNPs (single nucleotide polymorphisms) tend to accumulate within biological pathways, the incorporation of prior pathways information into a statistical model is expected to increase the power to detect true associations in a…

Methodology · Statistics 2012-01-30 Matt Silver , Giovanni Montana

Factor-analytic Gaussian mixture models are often employed as a model-based approach to clustering high-dimensional data. Typically, the numbers of clusters and latent factors must be specified in advance of model fitting, and remain fixed.…

Methodology · Statistics 2021-07-15 Keefe Murphy , Cinzia Viroli , Isobel Claire Gormley

In this work a new way to calculate the multivariate joint entropy is presented. This measure is the basis for a fast information-theoretic based evaluation of gene relevance in a Microarray Gene Expression data context. Its low complexity…

Quantitative Methods · Quantitative Biology 2013-02-08 Fernando González , Lluís A. Belanche

Selection bias can hinder accurate estimation of association parameters in binary disease risk models using non-probability samples like electronic health records (EHRs). The issue is compounded when participants are recruited from multiple…

Identifying shared genetic risk factors for multiple measured traits has been of great interest in studying complex disorders. Marlow's (2003) method for detecting shared gene effects on complex traits has been highly influential in the…

Methodology · Statistics 2009-04-16 Summer S. Han , Elena L. Grigorenko , Joseph T. Chang

Integrated IPD-AD analysis, which combines individual participant data (IPD) with aggregate data (AD), is increasingly recognized as an effective strategy for generating more reliable and generalizable inferences from heterogeneous studies.…

Methodology · Statistics 2026-03-03 Ming-Yueh Huang , Jing Qin , Chiung-Yu Huang

Approximate Bayesian computation is an established and popular method for likelihood-free inference with applications in many disciplines. The effectiveness of the method depends critically on the availability of well performing summary…

Machine Learning · Statistics 2018-05-23 Prashant Singh , Andreas Hellander

Drug development is a very costly and lengthy process, while repositioned or repurposed drugs could be brought into clinical practice within a shorter time-frame and at a much reduced cost. The past decade has observed a massive growth in…

Genomics · Quantitative Biology 2019-11-14 Alexandria Lau , Hon-Cheong So

We propose a novel approach for detecting change points in high-dimensional linear regression models. Unlike previous research that relied on strict Gaussian/sub-Gaussian error assumptions and had prior knowledge of change points, we…

Methodology · Statistics 2024-05-22 Bin Liu , Zhengling Qi , Xinsheng Zhang , Yufeng Liu

Recent advances in genotyping technology have delivered a wealth of genetic data, which is rapidly advancing our understanding of the underlying genetic architecture of complex diseases. Mendelian Randomization (MR) leverages such genetic…

Methodology · Statistics 2023-12-19 Wenhao Cao , Saonli Basu

In domain adaptation (DA), the effectiveness of deep learning-based models is often constrained by batch learning strategies that fail to fully apprehend the global statistical and geometric characteristics of data distributions. Addressing…

Machine Learning · Computer Science 2025-02-11 Lingkun Luo , Shiqiang Hu , Liming Chen

Clinical end-point traits are often characterized by quantitative or qualitative precursors and it has been argued that it may be statistically a more powerful strategy to analyze these precursor traits to decipher the genetic architecture…

Methodology · Statistics 2025-04-17 Soumya Sahu , Saurabh Ghosh

In genome-wide association (GWA) studies the goal is to detect association between one or more genetic markers and a given phenotype. The number of genetic markers in a GWA study can be in the order hundreds of thousands and therefore…

Methodology · Statistics 2016-12-22 Kari Krizak Halle , Srdjan Djurovic , Ole Andreas Andreassen , Mette Langaas

Transcriptome-wide association studies based on genetically predicted gene expression have the potential to identify novel regions associated with various complex traits. It has been shown that incorporating expression quantitative trait…

Applications · Statistics 2020-01-24 Aaron J. Molstad , Wei Sun , Li Hsu

Identifying phenotypes plays an important role in furthering our understanding of disease biology through practical applications within healthcare and the life sciences. The challenge of dealing with the complexities and noise within…

Applications · Statistics 2023-04-28 Andre Vauvelle , Hamish Tomlinson , Aaron Sim , Spiros Denaxas

The issue of combining individual $p$-values to aggregate multiple small effects is prevalent in many scientific investigations and is a long-standing statistical topic. Many classical methods are designed for combining independent and…

Methodology · Statistics 2021-09-08 Yusi Fang , George C. Tseng , Chung Chang

Recently-developed genotype imputation methods are a powerful tool for detecting untyped genetic variants that affect disease susceptibility in genetic association studies. However, existing imputation methods require individual-level…

Applications · Statistics 2010-11-15 Xiaoquan Wen , Matthew Stephens

Large case/control Genome-Wide Association Studies (GWAS) often include groups of related individuals with known relationships. When testing for associations at a given locus, current methods incorporate only the familial relationships…

Applications · Statistics 2014-08-01 Joshua N. Sampson , Bill Wheeler , Peng Li , Jianxin Shi

We present an alternative method for genome-wide association studies (GWAS) that is more powerful than the regular GWAS method for locus detection. The regular GWAS method suffers from a substantial multiple-testing burden because of the…

Applications · Statistics 2018-12-19 William Denault , Håkon K. Gjessing , Julius Juodakis , Bo Jacobsson , Astanand Jugessur