中文
相关论文

相关论文: PhenoKG: Knowledge Graph-Driven Gene Discovery and…

200 篇论文

Knowledge Graph Embeddings (KGE) have become a quite popular class of models specifically devised to deal with ontologies and graph structure data, as they can implicitly encode statistical dependencies between entities and relations in a…

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,…

机器学习 · 计算机科学 2026-02-24 Osman Onur Kuzucu , Tunca Doğan

Knowledge graph (KG) embedding has been used to benefit the diagnosis of animal diseases by analyzing electronic medical records (EMRs), such as notes and veterinary records. However, learning representations to capture entities and…

人工智能 · 计算机科学 2023-09-08 Van Thuy Hoang , Sang Thanh Nguyen , Sangmyeong Lee , Jooho Lee , Luong Vuong Nguyen , O-Joun Lee

Biological systems are governed by structured molecular interactions, where pathways, regulatory circuits, and functional gene relationships shape cellular behavior and disease progression. Much of this knowledge is naturally represented as…

机器学习 · 计算机科学 2026-05-26 Yuwei Xue , Sakib Mostafa , James Zou , Joseph Liao , Maximilian Diehn , Ash A. Alizadeh , Lei Xing , Md. Tauhidul Islam

Knowledge graph (KG) question generation (QG) aims to generate natural language questions from KGs and target answers. Previous works mostly focus on a simple setting which is to generate questions from a single KG triple. In this work, we…

计算与语言 · 计算机科学 2023-05-02 Yu Chen , Lingfei Wu , Mohammed J. Zaki

Cancer is responsible for millions of deaths worldwide every year. Although significant progress hasbeen achieved in cancer medicine, many issues remain to be addressed for improving cancer therapy.Appropriate cancer patient stratification…

机器学习 · 计算机科学 2021-01-18 David Oniani , Chen Wang , Yiqing Zhao , Andrew Wen , Hongfang Liu , Feichen Shen

In this work, we propose a new deep learning model for Genomic Prediction (GP), which involves correlating genotypic data with phenotypic. The genotypes are typically fed as a sequence of characters to the 1D-Convolution Neural Network…

机器学习 · 计算机科学 2026-03-03 Kuldeep Pathak , Kapil Ahuja , Eric de Sturler

Aiming at the limitations of traditional medical decision system in processing large-scale heterogeneous medical data and realizing highly personalized recommendation, this paper introduces a personalized medical decision algorithm…

机器学习 · 计算机科学 2024-05-29 Yafeng Yan , Shuyao He , Zhou Yu , Jiajie Yuan , Ziang Liu , Yan Chen

Gene interaction graphs aim to capture various relationships between genes and can represent decades of biology research. When trying to make predictions from genomic data, those graphs could be used to overcome the curse of dimensionality…

A primary goal of computational phenotype research is to conduct medical diagnosis. In hospital, physicians rely on massive clinical data to make diagnosis decisions, among which laboratory tests are one of the most important resources.…

人工智能 · 计算机科学 2017-11-20 Shiyue Zhang , Pengtao Xie , Dong Wang , Eric P. Xing

The widespread application of machine learning techniques to biomedical data has produced many new insights into disease progression and improving clinical care. Inspired by the flexibility and interpretability of graphs (networks), as well…

机器学习 · 计算机科学 2023-12-27 Steven J. Krieg , Nitesh V. Chawla , Keith Feldman

Many machine learning models have been proposed to classify phenotypes from gene expression data. In addition to their good performance, these models can potentially provide some understanding of phenotypes by extracting explanations for…

基因组学 · 定量生物学 2024-02-05 Myriam Bontonou , Anaïs Haget , Maria Boulougouri , Benjamin Audit , Pierre Borgnat , Jean-Michel Arbona

Identification of causal genes and pathways is a critical step for understanding the genetic underpinnings of rare diseases. We propose novel approaches to gene prioritization and pathway identification using DNA language model, graph…

定量方法 · 定量生物学 2024-11-12 Ali Saadat , Jacques Fellay

Benefiting from the powerful expressive capability of graphs, graph-based approaches have been popularly applied to handle multi-modal medical data and achieved impressive performance in various biomedical applications. For disease…

机器学习 · 计算机科学 2022-03-14 Shuai Zheng , Zhenfeng Zhu , Zhizhe Liu , Zhenyu Guo , Yang Liu , Yuchen Yang , Yao Zhao

Retrieving gene functional networks from knowledge databases presents a challenge due to the mismatch between disease networks and subtype-specific variations. Current solutions, including statistical and deep learning methods, often fail…

机器学习 · 计算机科学 2025-02-25 Ziwei Yang , Zheng Chen , Xin Liu , Rikuto Kotoge , Peng Chen , Yasuko Matsubara , Yasushi Sakurai , Jimeng Sun

We present a new unified graph-based representation of medical data, combining genetic information and medical records of patients with medical knowledge via a unique knowledge graph. This approach allows us to infer meaningful information…

人工智能 · 计算机科学 2024-10-22 Davide Belluomo , Tiziana Calamoneri , Giacomo Paesani , Ivano Salvo

Biomarker discovery from high-throughput transcriptomic data is crucial for advancing precision medicine. However, existing methods often neglect gene-gene regulatory relationships and lack stability across datasets, leading to conflation…

定量方法 · 定量生物学 2025-11-18 Chaowang Lan , Jingxin Wu , Yulong Yuan , Chuxun Liu , Huangyi Kang , Caihua Liu

Background : Knowledge is evolving over time, often as a result of new discoveries or changes in the adopted methods of reasoning. Also, new facts or evidence may become available, leading to new understandings of complex phenomena. This is…

计算与语言 · 计算机科学 2023-04-24 Ayoub Harnoune , Maryem Rhanoui , Mounia Mikram , Siham Yousfi , Zineb Elkaimbillah , Bouchra El Asri

Knowledge graph (KG) is an abstraction that can be extracted from text corpora and used for in-depth reasoning. Prior work has leveraged KGs to fine-tune language models (LMs), enabling domain-specific superintelligence. In this work, we…

计算与语言 · 计算机科学 2026-05-28 Jake Stephen , Niraj K. Jha

Medical diagnosis is the process of making a prediction of the disease a patient is likely to have, given a set of symptoms and observations. This requires extensive expert knowledge, in particular when covering a large variety of diseases.…

人工智能 · 计算机科学 2022-04-29 Niclas Heilig , Jan Kirchhoff , Florian Stumpe , Joan Plepi , Lucie Flek , Heiko Paulheim