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

Gene Families01:57

Gene Families

9.8K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
9.8K
Gene Families01:57

Gene Families

3.6K
3.6K
Protein Families02:47

Protein Families

16.7K
Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
16.7K
Protein Families02:47

Protein Families

4.3K
4.3K
Genomics02:02

Genomics

39.8K
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...
39.8K
Genetics of Speciation02:16

Genetics of Speciation

20.9K
Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
20.9K

You might also read

Related Articles

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

Sort by
Same author

Contrast-enhanced ultrasound in critical care: a problem-solving approach.

Frontiers in medicine·2026
Same author

Preferential nitrogen retention characterizes current eutrophication in United States lakes.

Nature communications·2026
Same author

Disruption of dynactin complex function in intellectual disability.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same author

Power from Potential: A Survey of Electrostatic Actuators for Haptics.

IEEE transactions on haptics·2026
Same author

Multi-omics profiling characterizes the primary cilium-related molecular regulatory landscape in systemic lupus erythematosus.

The Analyst·2026
Same author

<i>Oryza sativa</i> heavy metal ATPase (<i>OsHMA</i>) transporter-mediated cadmium uptake in rice: functional insights for low-Cd breeding.

Food chemistry. Molecular sciences·2026

Related Experiment Video

Updated: Jan 23, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.3K

Integrating Optical Genome Mapping With Conventional Methods in Families Seeking Genetic Counseling.

Yiyun Xu1, Qinxin Zhang1, Yixuan Liang1

  • 1Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University (Nanjing Women and Children's Healthcare Hospital), Nanjing, Jiangsu, China.

Prenatal Diagnosis
|January 21, 2026
PubMed
Summary

Integrating optical genome mapping (OGM) with conventional genetic testing improves the diagnosis of spontaneous abortion and offspring abnormalities. This powerful strategy enhances variant detection and characterization in affected families.

Keywords:
congenital abnormalitiesoptical genome mappingspontaneous abortionstructural variationsultrasound anomalies

More Related Videos

Amplification, Next-generation Sequencing, and Genomic DNA Mapping of Retroviral Integration Sites
09:31

Amplification, Next-generation Sequencing, and Genomic DNA Mapping of Retroviral Integration Sites

Published on: March 22, 2016

18.3K
A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes
09:10

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

10.0K

Related Experiment Videos

Last Updated: Jan 23, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.3K
Amplification, Next-generation Sequencing, and Genomic DNA Mapping of Retroviral Integration Sites
09:31

Amplification, Next-generation Sequencing, and Genomic DNA Mapping of Retroviral Integration Sites

Published on: March 22, 2016

18.3K
A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes
09:10

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

10.0K

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Genomic Medicine

Background:

  • Recurrent spontaneous abortion and congenital abnormalities pose significant diagnostic challenges.
  • Conventional genetic testing methods have limitations in detecting certain complex chromosomal rearrangements.

Purpose of the Study:

  • To evaluate the clinical utility of integrating optical genome mapping (OGM) with traditional genetic techniques.
  • To improve the diagnostic yield in families experiencing spontaneous abortions or with offspring abnormalities.

Main Methods:

  • A study involving 24 families with reproductive issues.
  • Genetic testing on fetuses/children followed by parental analysis using OGM and/or conventional methods.
  • Analysis of 76 samples, including fetal/child samples and parental samples.

Main Results:

  • Clinically significant variants were identified in 75% of fetuses/children and 66.7% of parents.
  • OGM detected various structural variations, including translocations and complex rearrangements, missed by conventional methods.
  • De novo variations were identified in 12.5% of families, and OGM provided detailed structural and breakpoint information.

Conclusions:

  • Integrating OGM with conventional genetic methods is a powerful and feasible diagnostic approach.
  • This combined strategy enhances the detection and characterization of genetic causes for spontaneous abortion and offspring abnormalities.
  • OGM offers superior resolution for structural variations compared to conventional techniques.