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DNA microarray gene-expression data has been widely used to identify cancerous gene signatures. Microarray can increase the accuracy of cancer diagnosis and prognosis. However, analyzing the large amount of gene expression data from…

Neural and Evolutionary Computing · Computer Science 2024-11-21 Maryam Eshraghi Evari , Md Nasir Sulaiman , Amir Rajabi Behjat

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

Modelling gene-gene epistatic interactions when computing genetic risk scores is not a well-explored subfield of genetics and could have potential to improve risk stratification in practice. Though applications of machine learning (ML) show…

Genomics · Quantitative Biology 2023-06-16 Nathaniel Gunter , Prashanthi Vemuri , Vijay Ramanan , Robel K Gebre

We train a neural network to predict distributional responses in gene expression following genetic perturbations. This is an essential task in early-stage drug discovery, where such responses can offer insights into gene function and inform…

Linear mixed models (LMMs) are a powerful and established tool for studying genotype-phenotype relationships. A limiting assumption of LMMs is that the residuals are Gaussian distributed, a requirement that rarely holds in practice.…

Genomics · Quantitative Biology 2014-08-10 Nicolo Fusi , Christoph Lippert , Neil D. Lawrence , Oliver Stegle

Medical imaging studies have collected high dimensional imaging data to identify imaging biomarkers for diagnosis, screening, and prognosis, among many others. These imaging data are often represented in the form of a multi-dimensional…

Applications · Statistics 2017-11-09 Michelle F. Miranda , Hongtu Zhu , Joseph G. Ibrahim

Cell heterogeneity and the inherent complexity due to the interplay of multiple molecular processes within the cell pose difficult challenges for current single-cell biology. We introduce an approach that identifies a disease phenotype from…

Predictive modeling from high-dimensional genomic data is often preceded by a dimension reduction step, such as principal components analysis (PCA). However, the application of PCA is not straightforward for multi-source data, wherein…

Quantitative Methods · Quantitative Biology 2017-07-19 Adam Kaplan , Eric F. Lock

Understanding the molecular processes that drive cellular life is a fundamental question in biological research. Ambitious programs have gathered a number of molecular datasets on large populations. To decipher the complex cellular…

Genomics · Quantitative Biology 2023-03-22 Myriam Bontonou , Anaïs Haget , Maria Boulougouri , Jean-Michel Arbona , Benjamin Audit , Pierre Borgnat

For the past few years, deep generative models have increasingly been used in biological research for a variety of tasks. Recently, they have proven to be valuable for uncovering subtle cell phenotypic differences that are not directly…

Image and Video Processing · Electrical Eng. & Systems 2026-01-28 Anis Bourou , Thomas Boyer , Kévin Daupin , Véronique Dubreuil , Aurélie De Thonel , Valérie Mezger , Auguste Genovesio

Genetic interactions play an important role in the progression of complex diseases, providing explanation of variations in disease phenotype missed by main genetic effects. Comparatively, there are fewer investigations on prognostic…

Methodology · Statistics 2021-09-23 Xing Qin , Shuangge Ma , Mengyun Wu

Advances in data collecting technologies in genomics have significantly increased the need for tools designed to study the genetic basis of many diseases. Effective statistical methods should excel in both prediction accuracy and biomarker…

Methodology · Statistics 2025-11-13 Anthony-Alexander Christidis , Stefan Van Aelst , Ruben Zamar

Survival prediction with small sets of features is a highly relevant topic for decision-making in clinical practice. I describe a method for predicting survival of amyotrophic lateral sclerosis (ALS) patients that was developed as a…

Applications · Statistics 2016-12-05 Christoph Kurz

Compared to facial expression recognition, expression synthesis requires a very high-dimensional mapping. This problem exacerbates with increasing image sizes and limits existing expression synthesis approaches to relatively small images.…

Computer Vision and Pattern Recognition · Computer Science 2020-11-19 Nazar Khan , Arbish Akram , Arif Mahmood , Sania Ashraf , Kashif Murtaza

We present a coherent Bayesian framework for selection of the most likely model from the five genetic models (genotypic, additive, dominant, co-dominant, and recessive) commonly used in genetic association studies. The approach uses a…

Methodology · Statistics 2015-04-22 Harold Bae , Thomas Perls , Martin Steinberg , Paola Sebastiani

Chemotherapy for cancer treatment is costly and accompanied by severe side effects, highlighting the critical need for early prediction of treatment outcomes to improve patient management and informed decision-making. Predictive models for…

Current machine learning has made great progress on computer vision and many other fields attributed to the large amount of high-quality training samples, while it does not work very well on genomic data analysis, since they are notoriously…

Machine Learning · Computer Science 2020-09-04 Ziyi Yang , Jun Shu , Yong Liang , Deyu Meng , Zongben Xu

We consider the problem of detecting and estimating the strength of association between a trait of interest and alleles or haplotypes in a small genomic region (e.g. a gene or a gene complex), when no direct information on that region is…

Applications · Statistics 2008-04-11 Rodrigo Labouriau , Poul Sørensen , Helle R. Juul-Madsen

This paper presents a novel method to make statistical inferences for both the model support and regression coefficients in a high-dimensional logistic regression model. Our method is based on the repro samples framework, in which we…

Methodology · Statistics 2024-03-18 Xiaotian Hou , Linjun Zhang , Peng Wang , Min-ge Xie

One of the central objectives of contemporary neuroimaging research is to create predictive models that can disentangle the connection between patterns of functional connectivity across the entire brain and various behavioral traits.…