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In the genome biology research, regulatory genome modeling is an important topic for many regulatory downstream tasks, such as promoter classification, transaction factor binding sites prediction. The core problem is to model how regulatory…

Genomics · Quantitative Biology 2021-11-04 Shentong Mo , Xi Fu , Chenyang Hong , Yizhen Chen , Yuxuan Zheng , Xiangru Tang , Zhiqiang Shen , Eric P Xing , Yanyan Lan

Transcription factors are proteins that regulate the expression of genes by binding to specific genomic regions known as Transcription Factor Binding Sites (TFBSs), typically located in the promoter regions of those genes. Accurate…

Machine Learning · Computer Science 2025-02-04 Nimisha Ghosh , Pratik Dutta , Daniele Santoni

Background: This research aims to improve glioblastoma survival prediction by integrating MR images, clinical and molecular-pathologic data in a transformer-based deep learning model, addressing data heterogeneity and performance…

Genetic variants (GVs) are defined as differences in the DNA sequences among individuals and play a crucial role in diagnosing and treating genetic diseases. The rapid decrease in next generation sequencing cost has led to an exponential…

Machine Learning · Computer Science 2024-12-06 Zehui Li , Vallijah Subasri , Guy-Bart Stan , Yiren Zhao , Bo Wang

Objective: To report imaging protocol and scheduling variance in routine care of glioblastoma patients in order to demonstrate challenges of integrating deep-learning models in glioblastoma care pathways. Additionally, to understand the…

Purpose: To develop a novel deep-learning model that integrates radiomics analysis in a multi-dimensional feature fusion workflow for glioblastoma (GBM) post-resection survival prediction. Methods: A cohort of 235 GBM patients with complete…

Medical Physics · Physics 2022-03-14 Zongsheng Hu , Zhenyu Yang , Haozhao Zhang , Eugene Vaios , Kyle Lafata , Fang-Fang Yin , Chunhao Wang

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

Gene regulation is a complex process involving the role of several genomic elements which work in concert to drive spatio-temporal expression. The experimental characterization of gene regulatory elements is a very complex and…

Genomics · Quantitative Biology 2007-10-11 Arvind Rao , Alfred O. Hero , David J. States , James Douglas Engel

Accurate prognosis for Glioblastoma (GBM) using deep learning (DL) is hindered by extreme spatial and structural heterogeneity. Moreover, inconsistent MRI acquisition protocols across institutions hinder generalizability of models.…

Machine Learning · Computer Science 2026-02-13 Ankita Paul , Wenyi Wang

Facial analysis technologies have recently measured up to the capabilities of expert clinicians in syndrome identification. To date, these technologies could only identify phenotypes of a few diseases, limiting their role in clinical…

Computer Vision and Pattern Recognition · Computer Science 2018-01-24 Yaron Gurovich , Yair Hanani , Omri Bar , Nicole Fleischer , Dekel Gelbman , Lina Basel-Salmon , Peter Krawitz , Susanne B Kamphausen , Martin Zenker , Lynne M. Bird , Karen W. Gripp

Gliomas are brain tumor types that have a high mortality rate which means early and accurate diagnosis is important for therapeutic intervention for the tumors. To address this difficulty, the proposed research will develop a hybrid deep…

Computer Vision and Pattern Recognition · Computer Science 2025-11-27 Pandiyaraju V , Sreya Mynampati , Abishek Karthik , Poovarasan L , D. Saraswathi

Predicting how genetic variation affects phenotypic outcomes at the organismal, cellular, and molecular levels requires deciphering the cis-regulatory code, the sequence rules by which non-coding regions regulate genes. In this perspective,…

By use of complex network dynamics and graph-based machine learning, we identified critical determinants of lineage-specific plasticity across the single-cell transcriptomics of pediatric high-grade glioma (pHGGs) subtypes: IDHWT…

Genomics · Quantitative Biology 2025-08-28 Abicumaran Uthamacumaran

Robust machine learning for regulatory genomics is studied under biologically and technically induced distribution shifts. Deep convolutional and attention based models achieve strong in distribution performance on DNA regulatory sequence…

Genomics · Quantitative Biology 2026-02-20 Yiyao Yang

In silico methods evaluating the mutation effects of missense mutations are providing an important approach for understanding mutations in personal genomes and identifying disease-relevant biomarkers. However, existing methods, including…

Quantitative Methods · Quantitative Biology 2024-06-14 Boshen Wang , Bowei Ye , Lin Xu , Jie Liang

Gliomas are the most frequent primary brain tumors in adults. Glioma change detection aims at finding the relevant parts of the image that change over time. Although Deep Learning (DL) shows promising performances in similar change…

Computer Vision and Pattern Recognition · Computer Science 2023-01-27 Tommaso Di Noto , Meritxell Bach Cuadra , Chirine Atat , Eduardo Gamito Teiga , Monika Hegi , Andreas Hottinger , Patric Hagmann , Jonas Richiardi

Systematic characterization of biological effects to genetic perturbation is essential to the application of molecular biology and biomedicine. However, the experimental exhaustion of genetic perturbations on the genome-wide scale is…

Genomics · Quantitative Biology 2024-03-06 Lingmin Zhan , Yuanyuan Zhang , Yingdong Wang , Aoyi Wang , Caiping Cheng , Jinzhong Zhao , Wuxia Zhang , Peng Lia , Jianxin Chen

This study presents a multi-faceted approach combining stereotactic biopsy with standard clinical open-craniotomy for sample collection, voxel-wise analysis of MR images, regression-based Generalized Additive Models (GAM), & whole-exome…

The task of understanding and interpreting the complex information encoded within genomic sequences remains a grand challenge in biological research and clinical applications. In this context, recent advancements in large language model…

Genomics · Quantitative Biology 2024-09-25 Qihang Zhao , Chi Zhang , Weixiong Zhang

Glioblastomas are the most aggressive type of glioma, having a 5-year survival rate of 6.9%. Treatment typically involves surgery, followed by radiotherapy and chemotherapy, and frequent magnetic resonance imaging (MRI) scans to monitor…

Image and Video Processing · Electrical Eng. & Systems 2025-06-05 Ana Matoso , Catarina Passarinho , Marta P. Loureiro , José Maria Moreira , Patrícia Figueiredo , Rita G. Nunes
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