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Gene-disease associations are fundamental for understanding disease etiology and developing effective interventions and treatments. Identifying genes not yet associated with a disease due to a lack of studies is a challenging task in which…

Machine Learning · Computer Science 2023-03-08 Paola Stolfi , Andrea Mastropietro , Giuseppe Pasculli , Paolo Tieri , Davide Vergni

Elucidating the genetic basis of human diseases is a central goal of genetics and molecular biology. While traditional linkage analysis and modern high-throughput techniques often provide long lists of tens or hundreds of disease gene…

Quantitative Methods · Quantitative Biology 2011-06-03 Fantine Mordelet , Jean-Philippe Vert

Network-based computational approaches to predict unknown genes associated with certain diseases are of considerable significance for uncovering the molecular basis of human diseases. In this paper, we proposed a kind of new…

Molecular Networks · Quantitative Biology 2018-11-14 Ke Hu , Jing-Bo Hu , Ju Xiang , Hui-Jia Li , Yan Zhang , Shi Chen , Chen-He Yi

Identification of disease genes, which are a set of genes associated with a disease, plays an important role in understanding and curing diseases. In this paper, we present a biomedical knowledge graph designed specifically for this…

A major challenge in biomedical data science is to identify the causal genes underlying complex genetic diseases. Despite the massive influx of genome sequencing data, identifying disease-relevant genes remains difficult as individuals with…

Genomics · Quantitative Biology 2020-01-20 Borislav H. Hristov , Bernard Chazelle , Mona Singh

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

Disease-gene association through Genome-wide association study (GWAS) is an arduous task for researchers. Investigating single nucleotide polymorphisms (SNPs) that correlate with specific diseases needs statistical analysis of associations.…

Quantitative Methods · Quantitative Biology 2020-12-21 Sezin Kircali Ata , Min Wu , Yuan Fang , Le Ou-Yang , Chee Keong Kwoh , Xiao-Li Li

A system level view of cellular processes for human and several organisms can be cap- tured by analyzing molecular interaction networks. A molecular interaction network formed of differentially expressed genes and their interactions helps…

Molecular Networks · Quantitative Biology 2016-11-09 Jeethu V. Devasia , Priya Chandran

Discovery gene-disease links is important in biology and medicine areas, enabling disease identification and drug repurposing. Machine learning approaches accelerate this process by leveraging biological knowledge represented in ontologies…

Machine Learning · Computer Science 2025-04-14 Catarina Canastra , Cátia Pesquita

Clinical predictions using clinical data by computational methods are common in bioinformatics. However, clinical predictions using information from genomics datasets as well is not a frequently observed phenomenon in research. Precision…

Genomics · Quantitative Biology 2021-06-25 Moeez M. Subhani , Ashiq Anjum

Diseases involve complex processes and modifications to the cellular machinery. The gene expression profile of the affected cells contains characteristic patterns linked to a disease. Hence, biological knowledge pertaining to a disease can…

Quantitative Methods · Quantitative Biology 2020-04-13 Thomas Gaudelet , Noel Malod-Dognin , Jon Sanchez-Valle , Vera Pancaldi , Alfonso Valencia , Natasa Przulj

The majority of common diseases are influenced by multiple genetic and environmental factors such as Cancer. Even though uncovering the main causes of disease is deemed difficult due to the complexity of gene-gene and gene-environment…

Other Computer Science · Computer Science 2017-05-10 Layan Nahlawi

Identifying genes associated with complex human diseases is one of the main challenges of human genetics and computational medicine. To answer this question, millions of genetic variants get screened to identify a few of importance. To…

Genomics · Quantitative Biology 2015-09-01 Aziz M. Mezlini , Fabio Fuligni , Adam Shlien , Anna Goldenberg

For most diseases, building large databases of labeled genetic data is an expensive and time-demanding task. To address this, we introduce genetic Generative Adversarial Networks (gGAN), a semi-supervised approach based on an innovative GAN…

Machine Learning · Computer Science 2020-07-03 Caio Davi , Ulisses Braga-Neto

Motivation: Uncovering the genomic causes of cancer, known as cancer driver genes, is a fundamental task in biomedical research. Cancer driver genes drive the development and progression of cancer, thus identifying cancer driver genes and…

Genomics · Quantitative Biology 2020-07-03 Vu Viet Hoang Pham , Lin Liu , Cameron Bracken , Gregory Goodall , Jiuyong Li , Thuc Duy Le

Identifying measurable genetic indicators (or biomarkers) of a specific condition of a biological system is a key element of precision medicine. Indeed it allows to tailor diagnostic, prognostic and treatment choice to individual…

Machine Learning · Statistics 2016-12-16 Chloé-Agathe Azencott

A main challenge of data-driven sciences is how to make maximal use of the progressively expanding databases of experimental datasets in order to keep research cumulative. We introduce the idea of a modeling-based dataset retrieval engine…

Quantitative Methods · Quantitative Biology 2015-06-19 Ali Faisal , Jaakko Peltonen , Elisabeth Georgii , Johan Rung , Samuel Kaski

In the field of health-care and bio-medical research, understanding the relationship between the symptoms of diseases is crucial for early diagnosis and determining hidden relationships between diseases. The study aimed to understand the…

Artificial Intelligence · Computer Science 2023-02-24 Zolzaya Dashdorj , Stanislav Grigorev , Munguntsatsral Dovdondash

Identifying disease-associated genes enables the development of precision medicine and the understanding of biological processes. Genome-wide association studies (GWAS), gene expression data, biological pathway analysis, and protein network…

Genomics · Quantitative Biology 2026-03-10 Muhammad Muneeb , David B. Ascher , YooChan Myung

Genetic risk prediction is an important component of individualized medicine, but prediction accuracies remain low for many complex diseases. A fundamental limitation is the sample sizes of the studies on which the prediction algorithms are…

Methodology · Statistics 2017-06-20 Sihai Dave Zhao
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