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

Mismatch Repair01:36

Mismatch Repair

42.7K
Overview
42.7K
Woodward–Hoffmann Selection Rules and Microscopic Reversibility01:34

Woodward–Hoffmann Selection Rules and Microscopic Reversibility

3.5K
Electrocyclic reactions, cycloadditions, and sigmatropic rearrangements are concerted pericyclic reactions that proceed via a cyclic transition state. These reactions are stereospecific and regioselective. The stereochemistry of the products depends on the symmetry characteristics of the interacting orbitals and the reaction conditions. Accordingly, pericyclic reactions are classified as either symmetry-allowed or symmetry-forbidden. Woodward and Hoffmann presented the selection criteria for...
3.5K

You might also read

Related Articles

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

Sort by
Same author

A graph-based approach to variant description extraction from sequences.

NAR genomics and bioinformatics·2025
Same author

HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.

Genome medicine·2024
Same author

Author Correction: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates.

Nature genetics·2024
Same author

Standardizing variant naming in literature with VariantValidator to increase diagnostic rates.

Nature genetics·2024
Same author

Comparison of the ABC and ACMG systems for variant classification.

European journal of human genetics : EJHG·2024
Same author

Systematic large-scale application of ClinGen InSiGHT <i>APC</i> -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.

medRxiv : the preprint server for health sciences·2024

Related Experiment Video

Updated: Nov 18, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.1K

Mutalyzer 2: next generation HGVS nomenclature checker.

Mihai Lefter1, Jonathan K Vis1,2, Martijn Vermaat1

  • 1Department of Human Genetics, Leiden University Medical Center (LUMC)Leiden, The Netherlands.

Bioinformatics (Oxford, England)
|February 4, 2021
PubMed
Summary

Mutalyzer 2 simplifies genetic variant description by automatically applying Human Genome Variation Society (HGVS) guidelines. This tool enhances accuracy in clinical genetics and research by correcting errors in variant nomenclature.

More Related Videos

Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
13:19

Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer

Published on: November 2, 2013

16.9K
Identification of Mouse and Human Antibody Repertoires by Next-Generation Sequencing
08:51

Identification of Mouse and Human Antibody Repertoires by Next-Generation Sequencing

Published on: March 15, 2019

12.7K

Related Experiment Videos

Last Updated: Nov 18, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.1K
Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
13:19

Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer

Published on: November 2, 2013

16.9K
Identification of Mouse and Human Antibody Repertoires by Next-Generation Sequencing
08:51

Identification of Mouse and Human Antibody Repertoires by Next-Generation Sequencing

Published on: March 15, 2019

12.7K

Area of Science:

  • Genetics
  • Bioinformatics
  • Clinical Diagnostics

Background:

  • Accurate genetic variant description is crucial for clinical diagnostics, scientific literature, and databases.
  • The Human Genome Variation Society (HGVS) provides guidelines for standardized variant nomenclature.
  • Manual application of HGVS guidelines can be complex and error-prone.

Purpose of the Study:

  • To present the Mutalyzer 2 tool suite for automated application of HGVS guidelines.
  • To simplify the process of checking and correcting genetic variant descriptions for users.
  • To improve the accuracy and consistency of variant reporting in genetics.

Main Methods:

  • Implementation of the Mutalyzer 2 tool suite.
  • Automated application of Human Genome Variation Society (HGVS) variant description guidelines.
  • Processing and analysis of genetic variant descriptions submitted by users.

Main Results:

  • Mutalyzer has processed over 133 million variant descriptions.
  • Approximately 50% of submitted variant descriptions were correct.
  • Syntactic or semantic errors were identified in 41% of cases, with automatic correction achieved in ~7%.

Conclusions:

  • Mutalyzer 2 effectively automates the application of HGVS guidelines.
  • The tool assists users in generating unambiguous variant descriptions, reducing errors.
  • Mutalyzer 2 is an Open Source tool available on GitHub with a running instance at mutalyzer.nl.