A Semantic Framework Supporting Multilayer Networks Analysis for Rare Diseases

Author:

Capuano Nicola1,Foggia Pasquale2ORCID,Greco Luca2,Ritrovato Pierluigi2ORCID

Affiliation:

1. University of Basilicata, Italy

2. University of Salerno, Italy

Abstract

Understanding the role played by genetic variations in diseases, exploring genomic variants and discovering disease-associated loci are among the most pressing challenges of genomic medicine. A huge and ever-increasing amount of information is available to researchers to address these challenges. Unfortunately, it is stored in fragmented ontologies and databases, which use heterogeneous formats and poorly integrated schemas. To overcome these limitations, we propose a linked data approach, based on the formalism of multilayer networks, able to integrate and harmonize biomedical information from multiple sources into a single dense network covering different aspects on Neuroendocrine Neoplasms (NENs). The proposed integration schema consists of three interconnected layers representing, respectively, information on the disease, on the affected genes, on the related biological processes and molecular functions. An easy-to-use client-server application was also developed to browse and search for information on the model supporting multilayer network analysis.

Publisher

IGI Global

Subject

Computer Networks and Communications,Information Systems

Cited by 8 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Semantic Coarse-to-Fine Granularity Learning for Two-Stage Few-Shot Anomaly Detection;International Journal on Semantic Web and Information Systems;2024-05-10

2. Optimization Design of High-Dimensional Parameters MIMO Antenna in Semantic-Based Mobile Applications;International Journal on Semantic Web and Information Systems;2024-05-10

3. Sustainable and intelligent time-series models for epidemic disease forecasting and analysis;Sustainable Technology and Entrepreneurship;2024-05

4. Investigating the barriers towards adoption and implementation of open innovation in healthcare;Technological Forecasting and Social Change;2024-03

5. A Named Entity Recognition Approach for Electronic Medical Records Using BERT Semantic Enhancement and BiLSTM;International Journal on Semantic Web and Information Systems;2023-11-16

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3