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A significant advancement in bioinformatics is using genome graph techniques to improve variation discovery across organisms. Traditional approaches, such as bwa mem, rely on linear reference genomes for genomic analyses but may introduce…

Genomics · Quantitative Biology 2025-05-14 Fathima Nuzla Ismail , Abira Sengupta

Genetic mutations can cause disease by disrupting normal gene function. Identifying the disease-causing mutations from millions of genetic variants within an individual patient is a challenging problem. Computational methods which can…

Machine Learning · Computer Science 2021-06-28 Jun Cheng , Carolin Lawrence , Mathias Niepert

The integration of knowledge graphs and graph machine learning (GML) in genomic data analysis offers several opportunities for understanding complex genetic relationships, especially at the RNA level. We present a comprehensive approach for…

Artificial Intelligence · Computer Science 2024-08-06 Shivika Prasanna , Ajay Kumar , Deepthi Rao , Eduardo Simoes , Praveen Rao

Motivation: The gene content regulates the biology of an organism. It varies between species and between individuals of the same species. Although tools have been developed to identify gene content changes in bacterial genomes, none is…

Genomics · Quantitative Biology 2024-05-30 Heng Li , Maximillian Marin , Maha Reda Farhat

A comprehensive analysis of viral mutations is essential for understanding viral evolution, disease epidemiology, diagnosis, drug resistance, etc. However, challenges remain in capturing complex mutation patterns and supporting diverse…

Quantitative Methods · Quantitative Biology 2026-04-24 Rui Wang , Xuhang Dai , Xin Cao , Changchuan Yin , Tamar Schlick , Guo-Wei Wei

Disease-gene prediction (DGP) refers to the computational challenge of predicting associations between genes and diseases. Effective solutions to the DGP problem have the potential to accelerate the therapeutic development pipeline at early…

Machine Learning · Computer Science 2019-07-15 Vikash Singh , Pietro Lio'

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

The growing availability of high-resolution, long-term time series data has highlighted the need for methods capable of capturing both local and global patterns. To address this, we introduce the Probabilistic Visibility Graph (PVG), a…

Systems and Control · Electrical Eng. & Systems 2025-07-03 Roberto Sotero , Jose Sanchez-Bornot

Probabilistic graphical models (PGMs) have become a popular tool for computational analysis of biological data in a variety of domains. But, what exactly are they and how do they work? How can we use PGMs to discover patterns that are…

Quantitative Methods · Quantitative Biology 2010-02-22 Edoardo M Airoldi

In the field of computer graphics, the use of vector graphics, particularly Scalable Vector Graphics (SVG), represents a notable development from traditional pixel-based imagery. SVGs, with their XML-based format, are distinct in their…

Computer Vision and Pattern Recognition · Computer Science 2023-11-28 Tong Zhang , Haoyang Liu , Peiyan Zhang , Yuxuan Cheng , Haohan Wang

Spatial variable genes (SVGs) reveal critical information about tissue architecture, cellular interactions, and disease microenvironments. As spatial transcriptomics (ST) technologies proliferate, accurately identifying SVGs across diverse…

Applications · Statistics 2025-10-21 Jiawen Chen , Jinwei Zhang , Dongshen Peng , Yutong Song , Aitong Ruan , Yun Li , Didong Li

Convolution-based and Transformer-based vision backbone networks process images into the grid or sequence structures, respectively, which are inflexible for capturing irregular objects. Though Vision GNN (ViG) adopts graph-level features…

Computer Vision and Pattern Recognition · Computer Science 2024-12-11 Jiafu Wu , Jian Li , Jiangning Zhang , Boshen Zhang , Mingmin Chi , Yabiao Wang , Chengjie Wang

Program representation, which aims at converting program source code into vectors with automatically extracted features, is a fundamental problem in programming language processing (PLP). Recent work tries to represent programs with neural…

Machine Learning · Computer Science 2022-02-28 Ting Long , Yutong Xie , Xianyu Chen , Weinan Zhang , Qinxiang Cao , Yong Yu

Pangenomes serve as a framework for joint analysis of genomes of related organisms. Several pangenome models were proposed, offering different functionalities, applications provided by available tools, their efficiency etc. Among them, two…

Genomics · Quantitative Biology 2025-03-20 Adam Cicherski , Norbert Dojer

The recent advances in sequencing technologies enables the assembly of individual genomes to the reference quality. How to integrate multiple genomes from the same species and to make the integrated representation accessible to biologists…

Genomics · Quantitative Biology 2020-03-16 Heng Li , Xiaowen Feng , Chong Chu

Background: Representing biological networks as graphs is a powerful approach to reveal underlying patterns, signatures, and critical components from high-throughput biomolecular data. However, graphs do not natively capture the multi-way…

Graphs are quickly emerging as a leading abstraction for the representation of data. One important application domain originates from an emerging discipline called "connectomics". Connectomics studies the brain as a graph; vertices…

Computational methods for assessing the likely impacts of mutations, known as variant effect predictors (VEPs), are widely used in the assessment and interpretation of human genetic variation, as well as in other applications like protein…

Background: DNA, RNA, and protein sequence motifs can be recognition sites for biological functions such as regulation, DNA base modification, and molecular binding in general. The gain and loss of such motifs can carry important…

Genomics · Quantitative Biology 2022-10-19 Afif Elghraoui , Faramarz Valafar

This paper presents Poisson vector graphics, an extension of the popular first-order diffusion curves, for generating smooth-shaded images. Armed with two new types of primitives, namely Poisson curves and Poisson regions, PVG can easily…

Graphics · Computer Science 2017-01-17 Fei Hou , Qian Sun , Zheng Fang , Yong-Jin Liu , Shi-Min Hu , Hong Qin , Aimin Hao , Ying He
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