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In genomics, differential abundance and expression analyses are complicated by the compositional nature of sequence count data, which reflect only relative-not absolute-abundances or expression levels. Many existing methods attempt to…

Methodology · Statistics 2025-12-16 Won Gu , Francesca Chiaromonte , Justin D. Silverman

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…

To date, genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants among a variety of traits/diseases, shedding a light on the genetic architecture of complex diseases. Polygenicity of complex…

Methodology · Statistics 2017-10-27 Yi Yang , Mingwei Dai , Jian Huang , Xinyi Lin , Can Yang , Jin Liu , Min Chen

For most diseases, building large databases of labeled genetic data is an expensive and time-demanding task. To address this, we introduce genetic Generative Adversarial Networks (gGAN), a semi-supervised approach based on an innovative GAN…

Machine Learning · Computer Science 2020-07-03 Caio Davi , Ulisses Braga-Neto

Biomedical researchers usually study the effects of certain exposures on disease risks among a well-defined population. To achieve this goal, the gold standard is to design a trial with an appropriate sample from that population. Due to the…

Applications · Statistics 2019-11-18 Cheng Zheng , Sayan Dasgupta , Yuxiang Xie , Asad Haris , Ying Qing Chen

Motivation: Recent advances in technology for brain imaging and high-throughput genotyping have motivated studies examining the influence of genetic variation on brain structure. Wang et al. (Bioinformatics, 2012) have developed an approach…

Methodology · Statistics 2016-10-18 Keelin Greenlaw , Elena Szefer , Jinko Graham , Mary Lesperance , Farouk S. Nathoo

The goal of this presentation is to build an efficient non-parametric Bayes classifier in the presence of large numbers of predictors. When analyzing such data, parametric models are often too inflexible while non-parametric procedures tend…

Methodology · Statistics 2013-01-07 Abhishek Bhattacharya

Methods utilizing instrumental variables have been a fundamental statistical approach to estimation in the presence of unmeasured confounding, usually occurring in non-randomized observational data common to fields such as economics and…

Methodology · Statistics 2022-10-06 Charles Spanbauer , Wei Pan

We develop a model-based methodology for integrating gene-set information with an experimentally-derived gene list. The methodology uses a previously reported sampling model, but takes advantage of natural constraints in the…

Methodology · Statistics 2015-06-02 Zhishi Wang , Qiuling He , Bret Larget , Michael A. Newton

Across various domains, the growing advocacy for open science and open-source machine learning has made an increasing number of models publicly available. These models allow practitioners to integrate them into their own contexts, reducing…

Machine Learning · Statistics 2025-01-31 Rui Duan

Genetic association analyses often involve data from multiple potentially-heterogeneous subgroups. The expected amount of heterogeneity can vary from modest (e.g., a typical meta-analysis) to large (e.g., a strong gene--environment…

Methodology · Statistics 2014-04-15 Xiaoquan Wen , Matthew Stephens

Progress in probabilistic generative models has accelerated, developing richer models with neural architectures, implicit densities, and with scalable algorithms for their Bayesian inference. However, there has been limited progress in…

Machine Learning · Statistics 2017-10-31 Dustin Tran , David M. Blei

Major advances have been made regarding the utilization of artificial intelligence in health care. In particular, deep learning approaches have been successfully applied for automated and assisted disease diagnosis and prognosis based on…

Methodology · Statistics 2020-03-24 Max Westphal , Antonia Zapf , Werner Brannath

This paper presents a new modeling strategy for joint unsupervised analysis of multiple high-throughput biological studies. As in Multi-study Factor Analysis, our goals are to identify both common factors shared across studies and…

Applications · Statistics 2018-06-27 Roberta De Vito , Ruggero Bellio , Lorenzo Trippa , Giovanni Parmigiani

Identifying differentially expressed (DE) genes associated with a sample characteristic is the primary objective of many microarray studies. As more and more studies are carried out with observational rather than well controlled…

Applications · Statistics 2012-07-02 Xi Kathy Zhou , Fei Liu , Andrew J. Dannenberg

Joint Bayesian factor models are popular for characterizing relationships between multivariate correlated predictors and a response variable. Standard models assume that all variables, including both the predictors and the response, are…

Methodology · Statistics 2025-05-19 Glenn Palmer , David B. Dunson

We present a probabilistic programmed deep kernel learning approach to personalized, predictive modeling of neurodegenerative diseases. Our analysis considers a spectrum of neural and symbolic machine learning approaches, which we assess…

Machine Learning · Computer Science 2021-01-13 Alexander Lavin

Next-generation sequencing technologies provide a revolutionary tool for generating gene expression data. Starting with a fixed RNA sample, they construct a library of millions of differentially abundant short sequence tags or "reads",…

Quantitative Methods · Quantitative Biology 2014-05-13 Dimitrios V. Vavoulis , Julian Gough

We propose small-variance asymptotic approximations for the inference of tumor heterogeneity (TH) using next-generation sequencing data. Understanding TH is an important and open research problem in biology. The lack of appropriate…

Methodology · Statistics 2015-11-17 Yanxun Xu , Peter Mueller , Yuan Yuan , Kamalakar Gulukota , Yuan Ji

Polygnicity refers to the phenomenon that multiple genetic variants have a non-zero effect on a complex trait. It is defined as the proportion of genetic variants that have a nonzero effect on the trait. Evaluation of polygenicity can…

Genomics · Quantitative Biology 2022-07-26 Arunabha Majumdar , Bogdan Pasaniuc
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