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

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

73
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...
73
Genetic Screens02:46

Genetic Screens

5.8K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.8K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

79
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
79
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

98
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
98
Genetic Variation01:25

Genetic Variation

1.5K
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
1.5K
Mutations01:39

Mutations

95.8K
Overview
95.8K

You might also read

Related Articles

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

Sort by
Same author

Sex differences in cardiovascular disease risk in type 1 diabetes: The vascular bed paradox in women.

Diabetes & vascular disease research·2026
Same authorSame journal

Genetics in Reproduction.

Seminars in reproductive medicine·2026
Same authorSame journal

Clinical Testing for Genetic Conditions.

Seminars in reproductive medicine·2026
Same author

Mosaic variants in the LIM homeobox 1 (LHX1) gene contribute to Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

Human genetics·2026
Same author

Overestimation of Pathogenic Variants in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·2026
Same author

The prevalence of pathogenic variants in medically actionable genes among individuals with idiopathic hypogonadotropic hypogonadism/Kallmann syndrome.

Journal of assisted reproduction and genetics·2025

Related Experiment Video

Updated: Mar 19, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

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

Published on: August 17, 2022

3.6K

Clinical Genetics in Reproductive Medicine: Variant Classification, Medically Actionable Genes, and Carrier

Anastasia Navitski1, Lawrence C Layman1,2,3

  • 1Department of Obstetrics and Gynecology, Medical College of Georgia at Augusta University, Augusta, Georgia.

Seminars in Reproductive Medicine
|March 17, 2026
PubMed
Summary
This summary is machine-generated.

Genomic sequencing in reproductive medicine requires understanding variant classification and interpretation. This review covers American College of Medical Genetics and Genomics guidelines and upcoming updates for clinical decision-making.

More Related Videos

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K

Related Experiment Videos

Last Updated: Mar 19, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

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

Published on: August 17, 2022

3.6K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Clinical Genomics

Background:

  • Genomic sequencing is increasingly used in reproductive medicine.
  • Clinicians need expertise in test interpretation and clinical integration of genomic findings.
  • The American College of Medical Genetics and Genomics (ACMG) provides standardized guidelines for sequence variant interpretation.

Purpose of the Study:

  • To review the ACMG standardized guidelines for sequence variant interpretation.
  • To highlight anticipated updates in the forthcoming v4.0 framework.
  • To discuss the implications of genomic sequencing in reproductive medicine, including incidental findings and carrier screening.

Main Methods:

  • Review of existing literature and guidelines from the ACMG.
  • Analysis of ACMG recommendations for variant classification and interpretation.
  • Discussion of tiered screening approaches (Tier 3 and Tier 4).

Main Results:

  • The ACMG provides a framework for classifying sequence variants.
  • Medically Actionable Genes (MAGs) are identified through incidental findings.
  • Carrier screening identifies variants predisposing to genetic diseases in offspring.
  • Tiered recommendations guide screening based on carrier frequency and phenotype.

Conclusions:

  • Genomic advances in reproductive medicine necessitate updated clinical interpretation skills.
  • Understanding ACMG guidelines is crucial for integrating genomic data into patient care.
  • Future updates to ACMG frameworks will further refine variant interpretation and clinical application.