Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Genomics

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

Genome Annotation and Assembly

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.

Evolutionary Relationships through Genome Comparisons

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...

Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Pathways to School Reentry for Children and Young People with a Medical or Mental Health Condition: An International Delphi Study.

Continuity in education·2025

Same author

Digital Remote Monitoring Using an mHealth Solution for Survivors of Cancer: Protocol for a Pilot Observational Study.

JMIR research protocols·2024

Same author

Towards a common European ethical and legal framework for conducting clinical research: the GATEKEEPER experience.

NPJ digital medicine·2024

Same author

Analysis of Pharmaceutical Companies' Social Media Activity during the COVID-19 Pandemic and Its Impact on the Public.

Behavioral sciences (Basel, Switzerland)·2024

Same author

Scoping Meta-Review of Methods Used to Assess Artificial Intelligence-Based Medical Devices for Heart Failure.

Bioengineering (Basel, Switzerland)·2023

Same author

GATEKEEPER's Strategy for the Multinational Large-Scale Piloting of an eHealth Platform: Tutorial on How to Identify Relevant Settings and Use Cases.

Journal of medical Internet research·2023

Search research articles

Related Experiment Video

Updated: Apr 28, 2026

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

Published on: October 5, 2018

Toward a Common Set of Interface Requirements for Genomic Data Management: Scoping Review.

Valeria Resendez¹, Funda Yıldırım¹, Eugenio Gaeta²

¹University of Twente, Enschede, The Netherlands.

Journal of Medical Internet Research

|April 27, 2026

Summary

This scoping review identified key functional and nonfunctional requirements for health and genomic data management platforms. These insights inform the design of systems supporting secure data sharing and analysis in clinical settings.

Keywords:

data sharing electronic health records functional requirements genomics interfaces nonfunctional requirements

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Droplet Barcoding-Based Single Cell Transcriptomics of Adult Mammalian Tissues

Droplet Barcoding-Based Single Cell Transcriptomics of Adult Mammalian Tissues

Published on: January 10, 2019

Related Experiment Videos

Last Updated: Apr 28, 2026

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

Published on: October 5, 2018

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Droplet Barcoding-Based Single Cell Transcriptomics of Adult Mammalian Tissues

Droplet Barcoding-Based Single Cell Transcriptomics of Adult Mammalian Tissues

Published on: January 10, 2019

Area of Science:

Health Informatics
Genomic Data Management
Precision Medicine

Background:

Genomic data integration with healthcare data is crucial for advancing precision medicine.
Managing large volumes of sensitive health and genomic data presents significant challenges.
Unified digital ecosystems are needed to streamline data collection, standardization, analysis, and governance.

Purpose of the Study:

To identify frequently discussed functional and nonfunctional requirements for health and genomic data management platforms.
To inform the design of platforms supporting data sharing and analysis in clinical settings.
To conduct a scoping review using the PRISMA-ScR methodology.

Main Methods:

Searched peer-reviewed English studies from 2014-2024 in major databases (Scopus, PubMed, Web of Science, Google Scholar).
Focused on user-centered perspectives of platforms for managing genomic data.
Extrapolated insights for thematic analysis and charted requirements by frequency.

Main Results:

Identified 26 functional requirements across data management, processing/analysis, and visualization.
Identified 20 nonfunctional requirements in communication, infrastructure, user experience, and security/compliance.
Analyzed issues crucial for developing an ideal health and genomic data management platform.

Conclusions:

Mapped key functional and nonfunctional requirements for clinical and data professionals.
Highlighted the need for secure infrastructure and governance for compliant data processing and sharing.
Provided insights for designing standardized platforms that promote efficient, compliant, and secure data exchange.