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

Sanger Sequencing

Sanger Sequencing

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...

RNA-seq

RNA-seq

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 microarray-based...

You might also read

Related Articles

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

Sort by

Same author

Evolutionary dynamics of Respiratory Syncytial Virus in pre-pandemic, pandemic, and post-pandemic periods in Houston, Texas, USA.

bioRxiv : the preprint server for biology·2026

Same author

Statins promote muscle metabolic danger and NLRP3-mediated myopathy via lower protein-prenylation and YAP.

Science advances·2026

Same author

Structural variant calling using Sniffles2.

Nature protocols·2026

Same author

Notable impact of urban ventilation corridors on the transport of particle-bound ultrashort-chain perfluoroalkyl substances in the atmosphere.

Journal of hazardous materials·2026

Same author

Postbiotics lower adipose tissue MHCII inflammation and blood glucose in obese mice, dependent on sex.

Physiological reports·2026

Same author

A complete human pancreatic cancer genome.

bioRxiv : the preprint server for biology·2026

Same journal

RNAbpFlow: base pair-augmented SE(3) flow matching for conditional RNA 3D structure generation.

Nature methods·2026

Same journal

Spatio-DARLIN enables robust and efficient in situ lineage tracing in mice at single-cell resolution.

Nature methods·2026

Same journal

EasyGrid: a versatile platform for automated cryo-EM sample preparation and quality control.

Nature methods·2026

Same journal

Cloud-based microscope enables live neuroimaging for 24 h and beyond with worldwide access.

Nature methods·2026

Same journal

Deep molecular profiling in three dimensions.

Nature methods·2026

Same journal

3D pathology-guided microdissection.

Nature methods·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Jun 17, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Accurate detection of complex structural variations using single-molecule sequencing.

Fritz J Sedlazeck¹, Philipp Rescheneder², Moritz Smolka²

¹Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. fritz.sedlazeck@bcm.edu.

|May 2, 2018

Summary

This summary is machine-generated.

New open-source tools, NGMLR and Sniffles, improve detection of structural variations using long-read sequencing. These methods enhance accuracy and reduce costs for genetic research and clinical applications.

More Related Videos

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Related Experiment Videos

Last Updated: Jun 17, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Following the Dynamics of Structural Variants in Experimentally Evolved Populations

Published on: February 3, 2023

Area of Science:

Genomics
Bioinformatics
Molecular Biology

Background:

Structural variations are a major source of genetic diversity but are difficult to study due to technological limitations.
Single-molecule long-read sequencing offers potential for advancing structural variation analysis, but faces challenges with high error rates.

Purpose of the Study:

To introduce novel open-source methods for long-read alignment (NGMLR) and structural variant identification (Sniffles).
To improve the sensitivity and precision of detecting structural variations, particularly in challenging genomic regions.

Main Methods:

Development and application of NGMLR for long-read alignment.
Utilizing Sniffles for precise structural variant identification from long-read data.
Analysis of diverse long-read datasets, including human genomes.

Main Results:

NGMLR and Sniffles demonstrate high sensitivity and precision in variant detection, outperforming existing methods.
Discovery of thousands of novel structural variants in human genomes.
Identification of systematic errors in short-read sequencing approaches.
Demonstrated ability to filter false positive events and operate on low-coverage data.

Conclusions:

NGMLR and Sniffles provide powerful, open-source solutions for structural variation analysis using long-read sequencing.
These tools overcome previous limitations, enabling more comprehensive and cost-effective genomic studies.
The methods have significant implications for advancing human health research and clinical diagnostics.