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

Genome Annotation and Assembly03:36

Genome Annotation and Assembly

19.5K
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.
19.5K
Sanger Sequencing01:57

Sanger Sequencing

760.2K
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...
760.2K
RNA-seq03:21

RNA-seq

10.5K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
10.5K
Genomics02:02

Genomics

37.8K
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...
37.8K
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

4.3K
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
4.3K
Cis-regulatory Sequences02:02

Cis-regulatory Sequences

10.8K
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
10.8K

You might also read

Related Articles

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

Sort by
Same author

Establishing Safe and Consistent Moderate Intravenous (IV) Sedation Practices in Dental Education: A Protocol-Based Approach.

Journal of dental education·2026
Same author

The management of hepatorenal syndrome-acute kidney injury (HRS-AKI): A national survey of hepatology provider practices.

Hepatology communications·2026
Same author

Validation structures for sequence variants of uncertain significance in hereditary cancer.

European journal of human genetics : EJHG·2026
Same author

Alkaline Phosphatase Normalization Occurs Less Frequently in Hispanic Patients With Primary Biliary Cholangitis.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2026
Same author

Randomized double-blind inpatient study of a gluten-free diet for negative symptoms in people with schizophrenia.

Schizophrenia research·2026
Same author

Standardizing RNA-seq Analysis of Fungal Pathogens Using BRC-Analytics and Agentic AI: A <i>Candidozyma auris</i> Case Study.

bioRxiv : the preprint server for biology·2026

Related Experiment Video

Updated: Oct 5, 2025

An Integrated Approach for Microprotein Identification and Sequence Analysis
09:37

An Integrated Approach for Microprotein Identification and Sequence Analysis

Published on: July 12, 2022

3.6K

Variant interpretation: UCSC Genome Browser Recommended Track Sets.

Anna Benet-Pagès1,2, Kate R Rosenbloom1, Luis R Nassar1

  • 1Genomics Institute, University of California Santa Cruz, Santa Cruz, California, USA.

Human Mutation
|January 28, 2022
PubMed
Summary
This summary is machine-generated.

The UCSC Genome Browser simplifies complex genomic data for clinical genetics. Recommended Track Sets help researchers interpret single nucleotide and copy number variants at appropriate genomic scales.

Keywords:
CNVSNVclinical geneticscopy number variantdatabasegenome browserrecommended track setsingle nucleotide variantvariant interpretation

More Related Videos

In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression
08:54

In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression

Published on: March 29, 2019

7.2K
RNA-Seq Analysis of Differential Gene Expression in Electroporated Chick Embryonic Spinal Cord
11:13

RNA-Seq Analysis of Differential Gene Expression in Electroporated Chick Embryonic Spinal Cord

Published on: November 1, 2014

14.8K

Related Experiment Videos

Last Updated: Oct 5, 2025

An Integrated Approach for Microprotein Identification and Sequence Analysis
09:37

An Integrated Approach for Microprotein Identification and Sequence Analysis

Published on: July 12, 2022

3.6K
In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression
08:54

In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression

Published on: March 29, 2019

7.2K
RNA-Seq Analysis of Differential Gene Expression in Electroporated Chick Embryonic Spinal Cord
11:13

RNA-Seq Analysis of Differential Gene Expression in Electroporated Chick Embryonic Spinal Cord

Published on: November 1, 2014

14.8K

Area of Science:

  • Genomics
  • Clinical Genetics
  • Bioinformatics

Background:

  • The UCSC Genome Browser has been a vital tool in genomics and clinical genetics since 2000.
  • Increasing data types and complexity have made the Browser more challenging to navigate.
  • Genomic data is globally dispersed but integrated into a single view on the Browser.

Purpose of the Study:

  • To simplify variant interpretation in clinical settings.
  • To provide researchers with quick access to relevant genomic datasets.
  • To address the need for different data resources for analyzing variants at varying genomic scales.

Main Methods:

  • Development of "Recommended Track Sets" for the UCSC Genome Browser.
  • Curating datasets relevant to specific genomic scales.
  • Designing a user-friendly interface for accessing and interpreting variant data.

Main Results:

  • Facilitation of variant interpretation through curated datasets.
  • Improved access to data for analyzing single nucleotide variants and copy number variants.
  • Enhanced support for researchers in interpreting genomic data at appropriate scales.

Conclusions:

  • Recommended Track Sets enhance the utility of the UCSC Genome Browser for clinical genetics.
  • The tool aids in the interpretation of genomic variants by providing scale-appropriate data.
  • This facilitates more efficient and accurate clinical genetic analysis.