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Our genomes influence nearly every aspect of human biology from molecular and cellular functions to phenotypes in health and disease. Human genetics studies have now associated hundreds of thousands of differences in our DNA sequence…

Other Quantitative Biology · Quantitative Biology 2023-07-27 IGVF Consortium

We present Glyph - a Python package for genetic programming based symbolic regression. Glyph is designed for usage let by numerical simulations let by real world experiments. For experimentalists, glyph-remote provides a separation of…

Mathematical Software · Computer Science 2018-03-22 Markus Quade , Julien Gout , Markus Abel

We consider a Bayesian functional data analysis for observations measured as extremely long sequences. Splitting the sequence into a number of small windows with manageable length, the windows may not be independent especially when they are…

Methodology · Statistics 2021-12-10 Suvo Chatterjee , Shrabanti Chowdhury , Duchwan Ryu , Sanjib Basu

Machine learning has shown promise in facial dysmorphology, where characteristic facial features provide diagnostic clues for rare genetic disorders. GestaltMatcher, a leading framework in this field, has demonstrated clinical utility…

Machine Learning · Computer Science 2025-09-16 Ali Burak Ünal , Cem Ata Baykara , Peter Krawitz , Mete Akgün

Automated blood morphology analysis can support hematological diagnostics in low- and middle-income countries (LMICs) but remains sensitive to dataset shifts from staining variability, imaging differences, and rare morphologies. Building…

Machine Learning · Computer Science 2026-01-08 Gabriel Ansah , Eden Ruffell , Delmiro Fernandez-Reyes , Petru Manescu

Goodness-of-fit (GoF) tests are a fundamental component of statistical practice, essential for checking model assumptions and testing scientific hypotheses. Despite their widespread use, popular GoF tests exhibit surprisingly low…

Methodology · Statistics 2025-10-28 Christian T. Covington , Jeffrey W. Miller

For many conditions, it is of clinical importance to know not just the ability of a test to distinguish between those with and without the disease, but also the sensitivity to detect disease at different stages: in particular, the test's…

Methodology · Statistics 2026-02-10 Efthymia Derezea , Nicky J Welton , Gabriel Rogers , Hayley E Jones

In cancer research, profiling studies have been extensively conducted, searching for genes/SNPs associated with prognosis. Cancer is a heterogeneous disease. Examining similarity and difference in the genetic basis of multiple subtypes of…

Methodology · Statistics 2013-04-18 Jin Liu , Jian Huang , Yawei Zhang , Qing Lan , Nathaniel Rothman , Tongzhang Zheng , Shuangge Ma

A novel method to classify human cells is presented in this work based on the transform-domain method on DNA methylation data. DNA methylation profile variations are observed in human cells with the progression of disease stages, and the…

Genomics · Quantitative Biology 2020-01-01 Xueyuan Zhao , Dario Pompili

Addressing the issues of who saying what to whom in multi-party conversations (MPCs) has recently attracted a lot of research attention. However, existing methods on MPC understanding typically embed interlocutors and utterances into…

Computation and Language · Computer Science 2023-07-19 Jia-Chen Gu , Zhen-Hua Ling , Quan Liu , Cong Liu , Guoping Hu

Most signal processing and statistical applications heavily rely on specific data distribution models. The Gaussian distributions, although being the most common choice, are inadequate in most real world scenarios as they fail to account…

Statistics Theory · Mathematics 2023-04-17 Ilya Soloveychik

DNA methylation is a crucial epigenetic marker used in various clocks to predict epigenetic age. However, many existing clocks fail to account for crucial information about CpG sites and their interrelationships, such as co-methylation…

Quantitative Methods · Quantitative Biology 2024-08-05 Saleh Sakib Ahmed , Nahian Shabab , Md. Abul Hassan Samee , M. Sohel Rahman

Pathogenic infections pose a significant threat to global health, affecting millions of people every year and presenting substantial challenges to healthcare systems worldwide. Efficient and timely testing plays a critical role in disease…

Quantitative Methods · Quantitative Biology 2023-08-03 Ananthan Nambiar , Chao Pan , Vishal Rana , Mahdi Cheraghchi , João Ribeiro , Sergei Maslov , Olgica Milenkovic

The sequential multiple assignment randomized trial (SMART) is the ideal study design for the evaluation of multistage treatment regimes, which comprise sequential decision rules that recommend treatments for a patient at each of a series…

Methodology · Statistics 2024-05-15 Anastasios A. Tsiatis , Marie Davidian

Federated Learning (FL) on graphs enables collaborative model training to enhance performance without compromising the privacy of each client. However, existing methods often overlook the mutable nature of graph data, which frequently…

Machine Learning · Computer Science 2025-03-07 Sungwon Kim , Yoonho Lee , Yunhak Oh , Namkyeong Lee , Sukwon Yun , Junseok Lee , Sein Kim , Carl Yang , Chanyoung Park

The number of studies on deep learning for medical diagnosis is expanding, and these systems are often claimed to outperform clinicians. However, only a few systems have shown medical efficacy. From this perspective, we examine a wide range…

Image and Video Processing · Electrical Eng. & Systems 2023-04-04 Numan Saeed , Muhammad Ridzuan , Hussain Alasmawi , Ikboljon Sobirov , Mohammad Yaqub

Permutation methods are commonly used to test significance of regressors of interest in general linear models (GLMs) for functional (image) data sets, in particular for neuroimaging applications as they rely on mild assumptions. Permutation…

Methodology · Statistics 2021-11-23 Tomas Mrkvicka , Mari Myllymaki , Mikko Kuronen , Naveen Naidu Narisetty

We propose Adaptive Deep Kernel Fitting with Implicit Function Theorem (ADKF-IFT), a novel framework for learning deep kernel Gaussian processes (GPs) by interpolating between meta-learning and conventional deep kernel learning. Our…

Machine Learning · Computer Science 2023-02-20 Wenlin Chen , Austin Tripp , José Miguel Hernández-Lobato

This article concerns testing for equality of distribution between groups. We focus on screening variables with shared distributional features such as common support, modes and patterns of skewness. We propose a Bayesian testing method…

Methodology · Statistics 2016-02-19 Eric F. Lock , David B. Dunson

The past decade has seen a rapid growth in omics technologies. Genome-wide association studies (GWAS) have uncovered susceptibility variants for a variety of complex traits. However, the functional significance of most discovered variants…

Genomics · Quantitative Biology 2017-02-22 Hon-Cheong So