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

Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

5.8K
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...
5.8K
Sanger Sequencing01:57

Sanger Sequencing

800.0K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
800.0K

You might also read

Related Articles

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

Sort by
Same author

Rental Arrears and Perceived Risk of Eviction among U.S. Renter Households by Household Composition, Race, and Ethnicity 2020 to 2024.

Socius : sociological research for a dynamic world·2026
Same author

Genetic findings and health care utilization among individuals undergoing population genomic screening for actionable hereditary disorders.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Pandemic Emergency Household Rental Assistance and the Well-Being of Children.

JAMA pediatrics·2026
Same author

Kauro, a graph-based chatbot for high-fidelity information transmission conversations.

medRxiv : the preprint server for health sciences·2026
Same author

Rental assistance, housing insecurity, & well-being: Spillover effects of emergency rental assistance during the COVID-19 pandemic.

Social science & medicine (1982)·2025
Same author

Did Emergency Rental Assistance Support Housing Stability During the COVID-19 Pandemic? Differential Effects Across Risk Strata.

Journal of urban health : bulletin of the New York Academy of Medicine·2025

Related Experiment Video

Updated: Apr 23, 2026

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes
09:10

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

10.5K

A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature.

Reece K Hart1, Rudolph Rico2, Emily Hare2

  • 1Invitae Inc., San Francisco, CA 94107 and 23andMe Inc., Mountain View, CA 94043, USA Invitae Inc., San Francisco, CA 94107 and 23andMe Inc., Mountain View, CA 94043, USA.

Bioinformatics (Oxford, England)
|October 3, 2014
PubMed
Summary
This summary is machine-generated.

A new Python library simplifies handling biological sequence variants using Human Genome Variation Society (HGVS) nomenclature. This open-source tool aids in parsing, formatting, and validating genetic variations for clinical diagnostics.

More Related Videos

Validating Whole Genome Nanopore Sequencing, using Usutu Virus as an Example
05:45

Validating Whole Genome Nanopore Sequencing, using Usutu Virus as an Example

Published on: March 11, 2020

10.9K
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

15.0K

Related Experiment Videos

Last Updated: Apr 23, 2026

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes
09:10

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

10.5K
Validating Whole Genome Nanopore Sequencing, using Usutu Virus as an Example
05:45

Validating Whole Genome Nanopore Sequencing, using Usutu Virus as an Example

Published on: March 11, 2020

10.9K
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

15.0K

Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Biological sequence variants are crucial in scientific literature and clinical reports.
  • The Human Genome Variation Society (HGVS) provides standardized nomenclature for these variants.
  • Existing programming libraries for HGVS nomenclature are scarce and not freely available.

Purpose of the Study:

  • To develop an open-source Python library for managing HGVS-formatted biological sequence variants.
  • To facilitate parsing, manipulation, formatting, and validation of genetic variations.
  • To support the application of high-throughput sequencing in clinical diagnostics.

Main Methods:

  • Developed an easy-to-use Python library implementing HGVS specifications.
  • Focused on sequence-level variation relevant to clinical diagnostics.
  • Released the library under the Apache 2.0 open-source license.

Main Results:

  • An open-source Python library for HGVS variant analysis is now available.
  • The library enables efficient parsing, manipulation, formatting, and validation of variants.
  • The implementation supports sequence-level variations critical for clinical applications.

Conclusions:

  • The new Python library addresses the need for accessible tools in HGVS variant analysis.
  • This resource will aid researchers and clinicians in standardizing and interpreting genetic variations.
  • Facilitates accurate data handling for high-throughput sequencing in diagnostics.