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 Experiment Videos

The human gene mutation database

D N Cooper1, E V Ball, M Krawczak

  • 1Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK. cooperdn@cardiff.ac.uk

Nucleic Acids Research
|February 21, 1998
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Relationship between olfactory function and quality of life in COVID-19 patients.

Rhinology·2026
Same author

Persisting chemosensory dysfunction in COVID-19 - a cross-sectional population-based survey.

Rhinology·2022
Same author

Long-term health sequelae and quality of life at least 6 months after infection with SARS-CoV-2: design and rationale of the COVIDOM-study as part of the NAPKON population-based cohort platform (POP).

Infection·2021
Same author

Serum metabolomic profiling highlights pathways associated with liver fat content in a general population sample.

European journal of clinical nutrition·2017
Same author

Five years of experience with the FiLaC™ laser for fistula-in-ano management: long-term follow-up from a single institution.

Techniques in coloproctology·2017
Same author

DNA Commission of the International Society for Forensic Genetics: Recommendations on the validation of software programs performing biostatistical calculations for forensic genetics applications.

Forensic science international. Genetics·2016
Same journal

Correction to 'scSuperAnnotator: A platform for benchmarking comparison and visualizing automated cellular annotation methods for scRNA-seq data'.

Nucleic acids research·2026
Same journal

Correction to 'Differentiable partition function calculation for RNA'.

Nucleic acids research·2026
Same journal

Deployment of non-canonical splicing in tunicate genomes is mediated by divergent U2AF function and changing m6A modification in U1 and U6 snRNA.

Nucleic acids research·2026
Same journal

Bacillus subtilis DnaB forms multiple protein-protein interactions essential for DNA replication initiation.

Nucleic acids research·2026
Same journal

Multiple forms of protein-protein and DNA binding are exhibited by BrxC from the BREX phage restriction system.

Nucleic acids research·2026
Same journal

Biosynthesis of glycosylated 5-hydroxycytosine in the DNA of diverse viruses.

Nucleic acids research·2026
See all related articles

The Human Gene Mutation Database (HGMD) is a vital resource detailing germline mutations in genes linked to inherited diseases. It offers comprehensive, integrated data for researchers and clinicians studying human genetic disorders.

Area of Science:

  • Human Genetics
  • Bioinformatics
  • Genomic Medicine

Background:

  • The Human Gene Mutation Database (HGMD) is a key resource for inherited human disease data.
  • It contains a vast collection of germline mutations in nuclear genes.

Purpose of the Study:

  • To provide a comprehensive, publicly accessible database of human gene mutations.
  • To facilitate the study of mutational mechanisms and support clinical genetic research.

Main Methods:

  • Data compilation from published literature on germline mutations.
  • Integration with other major genetic databases like GDB and OMIM.
  • Web-based accessibility with structured data presentation per gene and mutation type.

Main Results:

Related Experiment Videos

  • As of September 1997, HGMD contained nearly 12,000 mutations across 636 genes.
  • The database was growing at over 2,000 new entries annually.
  • Public access was established in April 1996, enhancing its utility.

Conclusions:

  • HGMD serves as a central, integrated resource for inherited human gene mutation data.
  • Its comprehensive nature and bioinformatics integration make it invaluable for genetic research and healthcare professionals.