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

Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.

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...

Pharmacogenomics: Identification of New Drug Targets

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

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...

Modern Molecular Taxonomy

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...

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

Imagining Genomics and Population Health in 2050: Anticipating Future Research, Policy, and Governance Needs.

Public health genomics·2026

Same author

An in vivo and in vitro spatiotemporal profile of human midbrain development.

Nature communications·2026

Same author

Joint profiling of cell morphology and gene expression during in vitro neurodevelopment.

eLife·2025

Same author

Examining the role of common variants in rare neurodevelopmental conditions.

Nature·2024

Same author

Somatic mutations alter the differentiation outcomes of iPSC-derived neurons.

Cell genomics·2023

Same author

Histone lysine methyltransferase-related neurodevelopmental disorders: current knowledge and saRNA future therapies.

Frontiers in cell and developmental biology·2023

Search research articles

Related Experiment Video

Updated: May 17, 2026

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

How next-generation sequencing is transforming complex disease genetics.

Helena Kilpinen¹, Jeffrey C Barrett

¹Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.

Trends in Genetics : TIG

|October 30, 2012

Summary

Next-generation sequencing accelerates human disease genetics research, enabling comprehensive analysis of genomic variation and phenotype. This technology enhances study designs and biological mechanism understanding for complex diseases.

More Related Videos

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Related Experiment Videos

Last Updated: May 17, 2026

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

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

Published on: April 11, 2016

Area of Science:

Genomics
Human Genetics
Molecular Biology

Background:

Advances in DNA sequencing technology are crucial for understanding human disease genetics.
Next-generation sequencing (NGS) offers a 50,000-fold increase in speed compared to previous methods like the Human Genome Project.
Complex diseases require moving beyond partial genetic information to comprehensive genomic analysis.

Purpose of the Study:

To describe sequence-based improvements for human disease genetic studies.
To outline strategies for prioritizing samples and genomic regions for sequencing.
To discuss the analysis of thousands of whole-genome sequences and understanding disease mechanisms.

Main Methods:

Leveraging next-generation sequencing for enhanced genetic study designs.
Prioritizing sample selection and genomic regions for efficient sequencing.
Developing analytical approaches for large-scale whole-genome sequence data.

Main Results:

NGS enables a shift from partial genetic analyses (e.g., GWAS) to complete genomic variation-phenotype relationship studies.
Improved methods for sample and region prioritization optimize sequencing efforts.
The technology facilitates the analysis of thousands of whole-genome sequences.

Conclusions:

Next-generation sequencing is transforming the scale and scope of human disease genetics research.
This technology allows for a deeper understanding of the biological mechanisms underlying complex diseases.
Future research will focus on analyzing large cohorts of whole-genome sequences to uncover novel disease associations.