Bioinformatics, Healthcare Informatics and Analytics: An Imperative for Improved Healthcare System

Oyelade, Jelili; Soyemi, Jumoke; Isewon, Itunuoluwa; Obembe, Olawole O.

doi:10.5120/ijais15-451318

Cited by 18 publications

(3 citation statements)

References 10 publications

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“…Genomic sequencing has proven to be an effective research and diagnostic tool for rare monogenic diseases [1], [2]. NGS-based assays, first implemented over a decade ago, have now become the prevalent technology in clinical genomics [3]- [5].…”

Section: Introductionmentioning

confidence: 99%

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease

Bouzinier

Etin

Trifonov³

et al. 2021

Preprint

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Despite genomic sequencing rapidly transforming from being a bench-side tool to a routine procedure in a hospital, there is a noticeable lack of genomic analysis software that supports both clinical and research workflows as well as crowdsourcing. Furthermore, most existing software packages are not forward-compatible in regards to supporting ever-changing diagnostic rules adopted by the genetics community. Regular updates of genomics databases make reproducible and traceable automated genetic diagnostics to be a challenge. Lastly, most of the software tools score low on explainability amongst clinicians. We have created a fully open-source variant curation tool, AnFiSA, with the intention to invite and accept contributions from clinicians, researchers and professional software developers. The design of AnFiSA addresses the aforementioned issues with current genomics software via the following architectural principles: using a multidimensional database management system (DBMS) for genomic data to address reproducibility, curated decision trees adaptable to changing clinical rules, and a crowdsourcing-friendly interface to address difficult-to-diagnose cases. We discuss how we have chosen our technology stack and describe the design and implementation of the software. Finally, we show in detail how selected workflows can be implemented using the current version of AnFiSA by a medical geneticist.

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Section: Introductionmentioning

confidence: 99%

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease

Bouzinier

Etin

Trifonov³

et al. 2021

Preprint

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“…Despite the enormous expenditure consumed by the current healthcare systems, clinical outcomes remain suboptimal, particularly in the USA, where 96 people per 100,000 die annually from conditions considered treatable [ 26 ]. A key factor attributed to such inefficiencies is the inability to effectively gather, share, and use information in a more comprehensive manner within the healthcare systems [ 27 ].…”

Section: Introductionmentioning

confidence: 99%

Big Data Analytics in Healthcare

Belle

Raghuram

Soroushmehr

et al. 2015

BioMed Research International

414

192

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The rapidly expanding field of big data analytics has started to play a pivotal role in the evolution of healthcare practices and research. It has provided tools to accumulate, manage, analyze, and assimilate large volumes of disparate, structured, and unstructured data produced by current healthcare systems. Big data analytics has been recently applied towards aiding the process of care delivery and disease exploration. However, the adoption rate and research development in this space is still hindered by some fundamental problems inherent within the big data paradigm. In this paper, we discuss some of these major challenges with a focus on three upcoming and promising areas of medical research: image, signal, and genomics based analytics. Recent research which targets utilization of large volumes of medical data while combining multimodal data from disparate sources is discussed. Potential areas of research within this field which have the ability to provide meaningful impact on healthcare delivery are also examined.

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“…In [12], author has introduced the increment of population which is proportional to the crime, lawbreaking standard concerning facts that has be acted is an enormous outcome that the states and administrations are focusing on in order to affirm that the committed acts are adjudicated justly. This analysis leads to Big Data Analytics.…”

Section: International Journal Of Computer Applications (0975 -8887) mentioning

confidence: 99%

Big Data Analytics in Healthcare and Delve Bioinformatics Data Space for Health Amelioration

Joel¹,

Priya²

2018

IJCA

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The healthcare informatics focuses on health data, information and knowledge, including their collection, processing, analysis and use bioinformatics employs computational tools and techniques to study and analyze large biological databases and to understand disease and study of inherent genetic information molecular structure by relating them with healthcare data. This amassing of healthcare information will enable the biologist and scientist to improve health as drug discovery. This paper touches on big data in healthcare and analyzes of those big data in healthcare for the better improvement of healthcare system, bioinformatics data stored in secured manner. Finally, the paper looks on the helpful result, the beneficence of each of them in amelioration of healthcare system. To achieve this health amelioration in bioinformatics, we use Hadoop as tools which collect and analyze the huge amount of data in healthcare system.

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Bioinformatics, Healthcare Informatics and Analytics: An Imperative for Improved Healthcare System

Cited by 18 publications

References 10 publications

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease

AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease

Big Data Analytics in Healthcare

Big Data Analytics in Healthcare and Delve Bioinformatics Data Space for Health Amelioration

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