Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

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%...

You might also read

Related Articles

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

Sort by

Same author

Improved heritability partitioning and enrichment analyses using summary statistics with graphREML.

Nature genetics·2026

Same author

SpaMFG: a Spatial Multi-omics Integration Method based on Feature Grouping.

Bioinformatics (Oxford, England)·2026

Same author

Global regional and national burden and trends of early-onset Parkinson's disease from 1990 to 2021.

NPJ Parkinson's disease·2026

Same author

Colocalization of eQTLs With Type 2 Diabetes and Glycemic Traits Using Whole-Genome Sequences in Diverse Populations From the NHLBI Trans-Omics in Precision Medicine (TOPMed) Program.

Diabetes·2026

Same author

Associations between residential environments and the risk of incident Alzheimer's disease and mild cognitive impairment: a 13-year prospective cohort study with 426,220 participants.

Aging & mental health·2026

Same author

MetaSTAARlite: an all-in-one tool for biobank-scale whole-genome sequencing meta-analysis.

Nature computational science·2026

Search research articles

Related Experiment Video

Updated: Sep 26, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

STAAR workflow: a cloud-based workflow for scalable and reproducible rare variant analysis.

Sheila M Gaynor¹, Kenneth E Westerman^2,3,4, Lea L Ackovic⁵

¹Department of Biostatistics, Harvard TH Chan School of Public Health, Boston, MA 02115, USA.

Bioinformatics (Oxford, England)

|April 20, 2022

Summary

This summary is machine-generated.

We developed a workflow for analyzing rare variants in whole genome sequencing data. This tool enhances rare variant analysis power by incorporating functional annotations and is optimized for cloud platforms.

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

Related Experiment Videos

Last Updated: Sep 26, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

Area of Science:

Genetics
Bioinformatics
Computational Biology

Background:

Whole genome sequencing (WGS) studies generate vast amounts of data, posing challenges for rare variant analysis.
Identifying the contribution of rare variants to complex diseases requires robust and efficient analytical tools.

Purpose of the Study:

To introduce a novel workflow description language (WDL) workflow for rare variant association testing.
To facilitate the integration of functional annotation information to improve the power of rare variant analyses.
To provide a user-friendly and cloud-optimized tool for WGS data analysis.

Main Methods:

Development of the variant-Set Test for Association using Annotation infoRmation (STAAR) workflow using WDL.
Implementation of gene-centric and genetic region approaches for rare variant testing.
Incorporation of functional annotations to enhance analytical power.
Optimization for cloud-based platforms like BioData Catalyst Powered by Terra.

Main Results:

The STAAR workflow enables genome-wide, candidate, and conditional rare variant analyses.
The workflow effectively integrates functional annotations to boost analytical power.
It is optimized for efficient implementation on cloud computing environments.

Conclusions:

The STAAR WDL workflow provides a powerful and accessible tool for rare variant analysis in WGS studies.
This workflow can be seamlessly integrated into comprehensive WGS analysis pipelines.
The tool enhances the ability to detect associations involving rare variants by leveraging functional information.