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...

Genomics

Genomics

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...

Genome Annotation and Assembly

Genome Annotation and Assembly

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.

You might also read

Related Articles

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

Sort by

Same author

Fanconi Anemia as a Window into Premalignant Field Cancerization of the Oral Mucosa.

medRxiv : the preprint server for health sciences·2026

Same author

Denoising image-based spatial transcriptomics data with DenoIST.

bioRxiv : the preprint server for biology·2025

Same author

Fancl-mutant mice reveal central role of monoubiquitination in Fanconi anemia and a model for therapeutic gene editing.

Blood advances·2025

Same author

simPIC:flexible simulation of paired-insertion counts for single-cell ATAC sequencing data.

bioRxiv : the preprint server for biology·2025

Same author

Differential PARP inhibitor responses in BRCA1-deficient and resistant cells in competitive co-culture.

PloS one·2025

Same author

A high-resolution meiotic crossover map from single-nucleus ATAC-seq reveals insights into the recombination landscape in mammals.

NAR genomics and bioinformatics·2025

Same journal

Somatic mobility of transposons is explosive and shaped by distinct integration biases in Arabidopsis thaliana.

Genome biology·2026

Same journal

UK Biobank whole-genome sequencing reveals robust contributions of rare variants to complex-trait heritability.

Genome biology·2026

Same journal

A one-week automated genome-wide optical pooled screen using OttoSeq.

Genome biology·2026

Same journal

Integrated lipidomic and transcriptomic profiling of the host response in human malaria.

Genome biology·2026

Same journal

Centromeric satellite expansion drives genome evolution in the snowy owl.

Genome biology·2026

Same journal

Mapping the landscape of allele-specific expression in porcine genomes.

Genome biology·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Nov 8, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Personalized genome structure via single gamete sequencing.

Ruqian Lyu^1,2, Vanessa Tsui^3,4, Davis J McCarthy^5,6

¹Bioinformatics and Cellular Genomics, St. Vincent's Institute of Medical Research, Melbourne, Australia.

|April 20, 2021

Summary

This summary is machine-generated.

Single-cell gamete sequencing enables personalized genetic maps from individual genomes. This approach merges short-read sequencing benefits with de novo assembly for advancements in personalized genetics and disease research.

More Related Videos

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

Published on: May 23, 2018

Related Experiment Videos

Last Updated: Nov 8, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing

Published on: May 23, 2018

Area of Science:

Genomics
Evolutionary Biology
Medical Genetics

Background:

Genetic maps are crucial for understanding disease genetics and evolution.
Traditionally, genome assembly used populations and pedigrees.
Individual gametes hold complete genomic information.

Purpose of the Study:

To explore single-cell gamete sequencing for personalized genetic maps.
To combine short-read sequencing with de novo genome assembly.
To advance the field of personalized genetics.

Main Methods:

Utilizing single-cell gamete sequencing.
Performing de novo chromosome-scale genome assembly.
Integrating short-read sequencing technologies.

Main Results:

Demonstrated potential for personalized genetic map construction.
Enabled merging of short-read data advantages with assembly capabilities.
Opened new avenues in personalized genetics.

Conclusions:

Single-cell gamete sequencing is a powerful tool for personalized genomics.
This method facilitates detailed individual genetic analysis.
It represents a significant step forward in understanding individual genetic variation and its implications.