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

Next-generation Sequencing03:00

Next-generation Sequencing

88.9K
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....
88.9K
Genomics02:02

Genomics

36.4K
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...
36.4K
RNA-seq03:21

RNA-seq

10.0K
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...
10.0K
Sanger Sequencing01:57

Sanger Sequencing

754.5K
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...
754.5K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.4K
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...
13.4K
Analysis of Population Pharmacokinetic Data01:12

Analysis of Population Pharmacokinetic Data

264
Analysis of population pharmacokinetic data involves studying the behavior of drugs within diverse populations to understand their pharmacokinetic parameters. Traditional pharmacokinetic methods typically involve collecting samples from a few individuals and estimating these parameters. While these methods are commonly used, they have limitations in capturing the variability in drug response among individuals or heterogeneous populations. Population pharmacokinetics is employed to address these...
264

You might also read

Related Articles

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

Sort by
Same author

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

Genetics in medicine : official journal of the American College of Medical Genetics·2025
Same author

Systematic phenotype and genotype characterization of Moebius syndrome.

Genetics in medicine open·2025
Same author

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

Genetics in medicine : official journal of the American College of Medical Genetics·2025
Same author

<i>TPMT</i> and <i>NUDT15</i> genotyping, TPMT enzyme activity and metabolite determination for thiopurines therapy: a reference laboratory experience.

Pharmacogenomics·2025
Same author

A Single Multiplex PCR and Single-Nucleotide Extension Assay for the Detection of Common Thanatophoric Dysplasia I and II Mutations.

The Journal of molecular diagnostics : JMD·2024
Same author

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.

Genetics in medicine : official journal of the American College of Medical Genetics·2024

Related Experiment Video

Updated: Jul 6, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

33.8K

Interrogating Pharmacogenetics Using Next-Generation Sequencing.

Yuan Ji1,2, Sherin Shaaban1,2

  • 1Department of Pathology, University of Utah, Salt Lake City, UT, United States.

The Journal of Applied Laboratory Medicine
|January 3, 2024
PubMed
Summary

Pharmacogenetics (PGx) testing is shifting towards whole-genome and whole-exome sequencing. This article outlines technical considerations for clinical laboratories developing next-generation sequencing (NGS)-based PGx tests for broader drug response insights.

More Related Videos

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

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

11.9K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

25.9K

Related Experiment Videos

Last Updated: Jul 6, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

33.8K
Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
13:24

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

11.9K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

25.9K

Area of Science:

  • Genomic Medicine
  • Pharmacogenomics
  • Molecular Diagnostics

Background:

  • Pharmacogenetics (PGx) studies the impact of genetic variations on drug response.
  • Advancements in molecular techniques enable PGx analysis at whole-exome and whole-genome scales.
  • Current clinical PGx testing often relies on targeted genotyping, with some adoption of next-generation sequencing (NGS).

Purpose of the Study:

  • To discuss technical considerations for clinical laboratories developing NGS-based PGx tests.
  • To highlight challenges and opportunities in NGS-based PGx test design and implementation.
  • To address bioinformatic pipelines, variant classification, and reporting for clinical utility.

Main Methods:

  • Review of technical aspects for developing NGS-based PGx assays.
  • Discussion of bioinformatic strategies for allele and diplotype assignment.
  • Consideration of rare variant classification and clinical reporting.

Main Results:

  • NGS platforms offer enhanced capabilities for PGx testing, including whole-genome and whole-exome sequencing.
  • Development of robust bioinformatic pipelines is crucial for accurate PGx allele and diplotype assignment.
  • Standardization of practices is needed to maximize the utility of NGS-based PGx profiling.

Conclusions:

  • The transition to NGS-based PGx testing is inevitable for clinical laboratories due to technological advancements and cost reductions.
  • Recognizing the potential and limitations of NGS is vital for successful clinical implementation.
  • Collaboration between laboratories and professional societies is essential for developing consistent and effective PGx testing practices.