English
Related papers

Related papers: PhenoKG: Knowledge Graph-Driven Gene Discovery and…

200 papers

The use of networks to integrate different genetic, proteomic, and metabolic datasets has been proposed as a viable path toward elucidating the origins of specific diseases. Here we introduce a new phenotypic database summarizing…

Biological Physics · Physics 2015-05-14 Cesar A. Hidalgo , Nicholas Blumm , Albert-Laszlo Barabasi , Nicholas Christakis

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 drug discovery and development process is a long and expensive one, costing over 1 billion USD on average per drug and taking 10-15 years. To reduce the high levels of attrition throughout the process, there has been a growing interest…

Quantitative Methods · Quantitative Biology 2022-08-22 Cheng Ye , Rowan Swiers , Stephen Bonner , Ian Barrett

It has been recently shown that sparse, nonnegative tensor factorization of multi-modal electronic health record data is a promising approach to high-throughput computational phenotyping. However, such approaches typically do not leverage…

Machine Learning · Computer Science 2018-08-09 Jette Henderson , Bradley A. Malin , Joyce C. Ho , Joydeep Ghosh

In this article, we propose a new method named fused mixed graphical model (FMGM), which can infer network structures for dichotomous phenotypes. We assumed that the interplay of different omics markers is associated with disease status and…

Methodology · Statistics 2022-09-01 Jaehyun Park , Sungho Won

Knowledge Graphs (KG) and associated Knowledge Graph Embedding (KGE) models have recently begun to be explored in the context of drug discovery and have the potential to assist in key challenges such as target identification. In the drug…

Biomolecules · Quantitative Biology 2022-06-01 Stephen Bonner , Ian P Barrett , Cheng Ye , Rowan Swiers , Ola Engkvist , Charles Tapley Hoyt , William L Hamilton

Benefiting from the powerful expressive capability of graphs, graph-based approaches have achieved impressive performance in various biomedical applications. Most existing methods tend to define the adjacency matrix among samples manually…

Machine Learning · Computer Science 2021-07-02 Shuai Zheng , Zhenfeng Zhu , Zhizhe Liu , Zhenyu Guo , Yang Liu , Yao Zhao

We present an end-to-end, interpretable, deep-learning architecture to learn a graph kernel that predicts the outcome of chronic disease drug prescription. This is achieved through a deep metric learning collaborative with a Support Vector…

Machine Learning · Computer Science 2020-08-06 Hao-Ren Yao , Der-Chen Chang , Ophir Frieder , Wendy Huang , I-Chia Liang , Chi-Feng Hung

Understanding which genes control which traits in an organism remains one of the central challenges in biology. Despite significant advances in data collection technology, our ability to map genes to traits is still limited. This…

Genomics · Quantitative Biology 2025-08-22 Manuel Serna-Aguilera , Fiona L. Goggin , Aranyak Goswami , Alexander Bucksch , Suxing Liu , Khoa Luu

Recent advances in research have demonstrated the effectiveness of knowledge graphs (KG) in providing valuable external knowledge to improve recommendation systems (RS). A knowledge graph is capable of encoding high-order relations that…

Information Retrieval · Computer Science 2020-04-02 Yang Gao , Yi-Fan Li , Yu Lin , Hang Gao , Latifur Khan

Retrosynthesis prediction is one of the fundamental challenges in organic chemistry and related fields. The goal is to find reactants molecules that can synthesize product molecules. To solve this task, we propose a new graph-to-graph…

Quantitative Methods · Quantitative Biology 2022-04-20 Zaiyun Lin , Shiqiu Yin , Lei Shi , Wenbiao Zhou , YingSheng Zhang

Predicting genetic perturbations enables the identification of potentially crucial genes prior to wet-lab experiments, significantly improving overall experimental efficiency. Since genes are the foundation of cellular life, building gene…

Quantitative Methods · Quantitative Biology 2025-05-09 Changxi Chi , Jun Xia , Jingbo Zhou , Jiabei Cheng , Chang Yu , Stan Z. Li

A computational challenge to validate the candidate disease genes identified in a high-throughput genomic study is to elucidate the associations between the set of candidate genes and disease phenotypes. The conventional gene set enrichment…

Genomics · Quantitative Biology 2011-02-22 TaeHyun Hwang , Wei Zhang , Maoqiang Xie , Rui Kuang

While deep learning has achieved great success in many fields, one common criticism about deep learning is its lack of interpretability. In most cases, the hidden units in a deep neural network do not have a clear semantic meaning or…

Genomics · Quantitative Biology 2019-06-04 Tianle Ma , Aidong Zhang

Drug recommendation (DR) systems aim to support healthcare professionals in selecting appropriate medications based on patients' medical conditions. State-of-the-art approaches utilize deep learning techniques for improving DR, but fall…

Information Retrieval · Computer Science 2025-11-03 Yu Lin , Zhen Jia , Philipp Christmann , Xu Zhang , Shengdong Du , Tianrui Li

In genome-scale constraint-based metabolic models, gene deletion strategies are essential for achieving growth-coupled production, where cell growth and target metabolite synthesis occur simultaneously. Despite the inherently networked…

Quantitative Methods · Quantitative Biology 2026-04-10 Ziwei Yang , Takeyuki Tamura

Understanding how small molecules perturb gene expression is essential for uncovering drug mechanisms, predicting off-target effects, and identifying repurposing opportunities. While prior deep learning frameworks have integrated multimodal…

Machine Learning · Computer Science 2026-01-01 Pascal Passigan , Kevin Zhu , Angelina Ning

A major task in genetic studies is to identify genes related to human diseases and traits to understand functional characteristics of genetic mutations and enhance patient diagnosis. Besides marginal analyses of individual genes,…

Methodology · Statistics 2021-11-09 Jin Jin , Yue Wang

In rare disease physician targeting, a major challenge is how to identify physicians who are treating diagnosed or underdiagnosed rare diseases patients. Rare diseases have extremely low incidence rate. For a specified rare disease, only a…

Machine Learning · Statistics 2017-01-23 Yong Cai , Yunlong Wang , Dong Dai

Computer vision-based methods have valuable use cases in precision medicine, and recognizing facial phenotypes of genetic disorders is one of them. Many genetic disorders are known to affect faces' visual appearance and geometry. Automated…

Computer Vision and Pattern Recognition · Computer Science 2023-05-25 Ömer Sümer , Fabio Hellmann , Alexander Hustinx , Tzung-Chien Hsieh , Elisabeth André , Peter Krawitz