Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genomics02:02

Genomics

39.7K
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...
39.7K
Issues And Trends In Healthcare Delivery System01:29

Issues And Trends In Healthcare Delivery System

6.1K
The issues and trends in healthcare delivery are constantly changing. The COVID-19 pandemic is one recent issue that wreaked havoc on healthcare systems, causing a shortage of healthcare workers, high demand for medicines and supplies, and increased medical expenditure due to a lack of insurance. Other issues include rising healthcare costs and care fragmentation.
Cost Containment
Payment for healthcare services has historically promoted adoption of costly and often unnecessary or inefficient...
6.1K
Genome Annotation and Assembly03:36

Genome Annotation and Assembly

20.5K
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.
20.5K
Next-generation Sequencing03:00

Next-generation Sequencing

97.8K
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....
97.8K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.3K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

6.9K
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...
6.9K

You might also read

Related Articles

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

Sort by
Same author

The GA4GH Categorical Variation Representation Specification: A Unified Computational Framework for Reasoning over Genomic Variant Categories.

bioRxiv : the preprint server for biology·2026
Same author

Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans.

The Journal of physiology·2026
Same author

Assessment of the adequacy of the Fast Healthcare Interoperability Resources (FHIR) Genomics standard for the representation of somatic testing reports.

JAMIA open·2026
Same author

Reclassification of intragenic DMD gene duplications by optical genome mapping resolves uncertainty and improves clinical management.

Neuromuscular disorders : NMD·2026
Same author

Recessive AARS1 variants perturb human and mouse development.

HGG advances·2026
Same author

When a Trait Becomes a Disease: A Rare Hematologic Overlap of Sickle Cell Trait and Hereditary Spherocytosis.

American journal of hematology·2025
Same journal

Digital divide in clinical and operational artificial intelligence adoption and implementation stages: US hospital diffusion patterns and AI deserts.

Journal of the American Medical Informatics Association : JAMIA·2026
Same journal

Extending the fundamental theorem of biomedical informatics: a proposal and illustrative examples.

Journal of the American Medical Informatics Association : JAMIA·2026
Same journal

Human factors methods for designing safe health information technology: what do the experts think?

Journal of the American Medical Informatics Association : JAMIA·2026
Same journal

Equity-by-design for socially assistive robots as digital health tools.

Journal of the American Medical Informatics Association : JAMIA·2026
Same journal

Orchestrator multi-agent clinical decision support system for secondary headache diagnosis in primary care.

Journal of the American Medical Informatics Association : JAMIA·2026
Same journal

CUI-Curate: a GraphRAG-based framework for automated clinical concept curation for NLP applications.

Journal of the American Medical Informatics Association : JAMIA·2026
See all related articles

Related Experiment Video

Updated: Jan 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

34.6K

Genetic data normalization for genomic medicine: a Fast Healthcare Interoperability Resources Genomics reference

Robert H Dolin1, Nicolae-Mihai Todor2, James Shalaby1

  • 1Elimu Informatics, El Cerrito, CA 94530, United States.

Journal of the American Medical Informatics Association : JAMIA
|September 18, 2025
PubMed
Summary
This summary is machine-generated.

Genomic data normalization algorithms were successfully integrated into a FHIR Genomics reference implementation, addressing variability in genetic variants and HLA alleles. This work enhances data precision for clinical applications and research.

Keywords:
FHIR genomicsgenetic data normalizationgenomicsprecision medicinevariant annotation

More Related Videos

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.9K
Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

4.8K

Related Experiment Videos

Last Updated: Jan 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

34.6K
Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
11:02

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on: October 18, 2013

19.9K
Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

4.8K

Area of Science:

  • Genomic data standards and interoperability
  • Clinical informatics and health data management
  • Bioinformatics and computational biology

Background:

  • Genomic data representation variability hinders precise search, clinical decision support, and variant annotation.
  • This variability extends beyond genetic variants to include HLA alleles and phenotype codes.
  • Normalization algorithms are crucial for standardizing diverse genomic data types.

Purpose of the Study:

  • To demonstrate the encapsulation of clinical-grade genomics data normalization algorithms within a FHIR Genomics reference implementation.
  • To address the challenges posed by genomic data variability in clinical and research settings.
  • To provide a public, open-source solution for genomic data normalization.

Main Methods:

  • Developed design considerations to evaluate different normalization approaches.
  • Implemented normalization for genetic variants using the biocommons/hgvs package.
  • Utilized py-ard for HLA allele normalization and FHIR ConceptMaps for terminology translation.

Main Results:

  • Successfully implemented and deployed algorithms for genetic variant and HLA allele normalization.
  • Integrated terminology translation for conditions and medications using FHIR ConceptMaps.
  • Made all data and source code publicly available in an open-source FHIR Genomics Operations reference implementation.

Conclusions:

  • Successfully encapsulated genomic data normalization within FHIR Genomics Operations.
  • Identified challenges and solutions that have broad applicability beyond this specific implementation.
  • Highlighted the importance of normalization for advancing genomic data utilization in healthcare.