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Distinguishing the rare "driver" mutations that fuel cancer progression from the vast background of "passenger" mutations in the non-coding genome is a fundamental challenge in cancer biology. A primary mechanism that non-coding driver…

Genomics · Quantitative Biology 2025-10-01 David Laub , Ethan Armand , Arda Pekis , Zekai Chen , Irsyad Adam , Shaun Porwal , Bing Ren , Kevin Brown , Hannah Carter

How to automatically design better machine learning programs is an open problem within AutoML. While evolution has been a popular tool to search for better ML programs, using learning itself to guide the search has been less successful and…

Machine Learning · Computer Science 2024-02-09 John D. Co-Reyes , Yingjie Miao , George Tucker , Aleksandra Faust , Esteban Real

Metagenomic disease prediction commonly relies on species abundance tables derived from large, incomplete reference catalogs, constraining resolution and discarding valuable information contained in DNA reads. To overcome these limitations,…

Genomics · Quantitative Biology 2026-01-08 Gaspar Roy , Eugeni Belda , Baptiste Hennecart , Yann Chevaleyre , Edi Prifti , Jean-Daniel Zucker

Foundation models for single-cell RNA sequencing (scRNA-seq) have shown promising capabilities in capturing gene expression patterns. However, current approaches face critical limitations: they ignore biological prior knowledge encoded in…

Machine Learning · Computer Science 2025-03-04 Mufan Qiu , Xinyu Hu , Fengwei Zhan , Sukwon Yun , Jie Peng , Ruichen Zhang , Bhavya Kailkhura , Jiekun Yang , Tianlong Chen

Predicting gene function from its DNA sequence is a fundamental challenge in biology. Many deep learning models have been proposed to embed DNA sequences and predict their enzymatic function, leveraging information in public databases…

In cancer biomarker development, a key objective is to evaluate whether a new biomarker, when combined with an established one, improves early cancer detection compared to using the established biomarker alone. Incremental value is often…

Methodology · Statistics 2025-11-21 Indrila Ganguly , Ying Huang

Diabetes is a worldwide health issue affecting millions of people. Machine learning methods have shown promising results in improving diabetes prediction, particularly through the analysis of diverse data types, namely gene expression data.…

Machine Learning · Computer Science 2024-04-24 Rita T. Sousa , Heiko Paulheim

Protein contacts contain important information for protein structure and functional study, but contact prediction from sequence information remains very challenging. Recently evolutionary coupling (EC) analysis, which predicts contacts by…

Quantitative Methods · Quantitative Biology 2015-12-01 Siqi Sun , Jianzhu Ma , Sheng Wang , Jinbo Xu

One of the notable fields in studying the genetics of cancer is disease gene identification which affects disease treatment and drug discovery. Many researches have been done in this field. Genome-wide association studies (GWAS) are one of…

Computational Engineering, Finance, and Science · Computer Science 2016-04-27 Zahra Razaghi-Moghadama , Razieh Abdollahia , Sama Goliaeib , Morteza Ebrahimia

Biomedical signals provide insights into various conditions affecting the human body. Beyond diagnostic capabilities, these signals offer a deeper understanding of how specific organs respond to an individual's emotions and feelings. For…

Signal Processing · Electrical Eng. & Systems 2025-10-08 Pubudu L. Indrasiri , Bipasha Kashyap , Pubudu N. Pathirana

The search for high-affinity aptamers for targets such as proteins, small molecules, or cancer cells remains a formidable endeavor. Systematic Evolution of Ligands by EXponential Enrichment (SELEX) offers an iterative process to discover…

Biological Physics · Physics 2016-12-30 Fabian Spill , Zohar B. Weinstein , Atena Irani Shemirani , Nga Ho , Darash Desai , Muhammad H. Zaman

The advent of highly accurate protein structure prediction methods has fueled an exponential expansion of the protein structure database. Consequently, there is a rising demand for rapid and precise structural homolog search. Traditional…

Biomolecules · Quantitative Biology 2023-12-01 Yuan Liu , Hong-Bin Shen

Gene expression datasets offer insights into gene regulation mechanisms, biochemical pathways, and cellular functions. Additionally, comparing gene expression profiles between disease and control patients can deepen the understanding of…

Machine Learning · Computer Science 2025-03-27 Rita T. Sousa , Heiko Paulheim

DNA sequence alignment involves assigning short DNA reads to the most probable locations on an extensive reference genome. This process is crucial for various genomic analyses, including variant calling, transcriptomics, and epigenomics.…

Multimodal alignment of histopathology encoders with transcriptomic and genomic data has been shown to significantly improve performance in downstream diagnostic tasks. Hematological cytology is unique in that visual single-cell evaluation…

Computer Vision and Pattern Recognition · Computer Science 2026-05-29 Muhammed Furkan Dasdelen , Fatih Ozlugedik , Ilaria Looser , Rao Muhammad Umer , Christian Pohlkamp , Carsten Marr

Understanding disease-gene associations is essential for unravelling disease mechanisms and advancing diagnostics and therapeutics. Traditional approaches based on manual curation and literature review are labour-intensive and not scalable,…

Machine Learning · Computer Science 2026-02-24 Osman Onur Kuzucu , Tunca Doğan

Enzyme Commission (EC) numbers, which associate a protein sequence with the biochemical reactions it catalyzes, are essential for the accurate understanding of enzyme functions and cellular metabolism. Many ab-initio computational…

Machine Learning · Computer Science 2023-06-07 Zhenkun Shi , Qianqian Yuan , Ruoyu Wang , Hoaran Li , Xiaoping Liao , Hongwu Ma

The goal of Feature Selection - comprising filter, wrapper, and embedded approaches - is to find the optimal feature subset for designated downstream tasks. Nevertheless, current feature selection methods are limited by: 1) the selection…

Machine Learning · Computer Science 2023-09-18 Meng Xiao , Dongjie Wang , Min Wu , Pengfei Wang , Yuanchun Zhou , Yanjie Fu

Clinical machine learning applications are often plagued with confounders that are clinically irrelevant, but can still artificially boost the predictive performance of the algorithms. Confounding is especially problematic in mobile health…

Applications · Statistics 2018-11-29 Elias Chaibub Neto

Measuring natural selection on genomic elements involved in the cis-regulation of gene expression -- such as transcriptional enhancers and promoters -- is critical for understanding the evolution of genomes, yet it remains a major…

Populations and Evolution · Quantitative Biology 2013-08-08 Justin D. Smith , Kimberly F. McManus , Hunter B. Fraser