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-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

16.5K
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...
16.5K
RNA-seq03:21

RNA-seq

12.4K
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...
12.4K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

19.7K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
19.7K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.2K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
19.2K
Sanger Sequencing01:57

Sanger Sequencing

777.7K
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...
777.7K

You might also read

Related Articles

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

Sort by
Same author

Integration of lung tissue proteomics and genome-wide association data to identify lung cancer susceptibility proteins and potential drug targets.

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

Effects of forest bathing versus indoor gym exercise on exercise-related boredom: a randomized crossover trial with repeated measures.

Frontiers in psychology·2026
Same author

Multi-ancestry transcriptome-wide association studies uncover insights into breast cancer genetics and biology.

Nature communications·2026
Same author

Integrating genetically predicted transcriptomic signatures with longitudinal real-world data enables scalable drug repurposing for Alzheimer's disease.

Research square·2026
Same author

African ancestry and risk variants associated with triple-negative breast cancer susceptibility in African American women.

Genome medicine·2026
Same author

Saliva vs Plasma in Liquid Biopsy Sampling for Head and Neck Cancer: A Comparative Study.

Clinical chemistry·2026

Related Experiment Video

Updated: Mar 21, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.8K

RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data.

Xiaowei Zhan1, Youna Hu2, Bingshan Li3

  • 1Department of Clinical Science, Quantitative Biomedical Research Center, Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Bioinformatics (Oxford, England)
|May 7, 2016
PubMed
Summary
This summary is machine-generated.

RVTESTS is a new software tool for analyzing rare genetic variants in complex diseases. It efficiently integrates diverse data for gene-level association tests, improving variant prioritization.

More Related Videos

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.7K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K

Related Experiment Videos

Last Updated: Mar 21, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.8K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.7K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K

Area of Science:

  • Genetics
  • Bioinformatics
  • Computational Biology

Background:

  • Next-generation sequencing (NGS) enables large-scale assessment of rare and low-frequency genetic variants in complex human diseases.
  • Gene-level association tests are crucial for analyzing multiple rare variants within a gene region collectively.
  • Analyzing sequence data requires integrating heterogeneous information like annotations, functional scores, allele frequencies, genotypes, and phenotypes.

Purpose of the Study:

  • To develop an efficient software tool, RVTESTS, to address the challenges of analyzing large-scale sequence data for rare variant association.
  • To implement a comprehensive set of rare variant association statistics supporting various data types and individual relationships.
  • To provide integrated features for variant annotation, database integration, quality control, and sample selection.

Main Methods:

  • RVTESTS implements a broad spectrum of gene-level rare variant association statistics.
  • The software supports the analysis of both autosomal and X-linked variants.
  • It accommodates analyses for both unrelated and related individuals, enhancing its applicability.

Main Results:

  • RVTESTS demonstrates enhanced functionality and efficiency in analyzing rare variants.
  • The tool effectively integrates diverse data sources for comprehensive genetic association studies.
  • Illustrative analyses using the 1000 Genomes Project data showcase RVTESTS's capabilities.

Conclusions:

  • RVTESTS provides a powerful and efficient solution for rare variant association analysis in complex diseases.
  • The software facilitates the integration of multiple data types, aiding in the identification of causal variants.
  • RVTESTS is a valuable tool for researchers working with large-scale sequencing data.