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

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Genomics02:02

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...
Genetic Screens02:46

Genetic Screens

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 result in visible changes...
Genetic Material01:20

Genetic Material

Within the human body, a complex and detailed system of trillions of cells works in unison to sustain life. Each cell houses a nucleus, which contains 46 chromosomes divided into 23 pairs. Chromosomes are highly coiled structures made of the genetic material DNA. These chromosomes are essential carriers of genetic information, with half inherited from the mother through her egg and the other half from the father's sperm, combining to create the unique genetic makeup of an individual.
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
Inheritance01:25

Inheritance

Gregor Mendel's pioneering work on the principles of inheritance fundamentally transformed our understanding of how traits are transmitted from generation to generation. His experiments with pea plants laid the groundwork for the discovery of genes, discrete units within organisms that control heredity.
Each gene exists in pairs, and the combination of these genes from both parents forms an individual's genotype. This genotype is a blueprint of potential traits. Examples of genotype traits...

You might also read

Related Articles

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

Sort by
Same author

Outcomes from the English National Lynch Syndrome transformation project.

International journal of cancer·2026
Same author

The English National Lynch Syndrome transformation project: an NHS Genomic Medicine Service Alliance (GMSA) programme.

BMJ oncology·2025
Same author

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.

American journal of medical genetics. Part C, Seminars in medical genetics·2024
Same author

Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway.

European journal of human genetics : EJHG·2024
Same author

A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasia.

FEBS letters·2023
Same author

5p13 microduplication in a malformed fetus and his unaffected father.

American journal of medical genetics. Part A·2022
Same journal

New insights into the complex genetic architecture of age-related hearing loss.

European journal of medical genetics·2026
Same journal

Clinical and genetic spectrum of trichorhinophalangeal syndrome type I/III in 20 children of Korean origin.

European journal of medical genetics·2026
Same journal

Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy.

European journal of medical genetics·2026
Same journal

A novel de novo CACNA1G variant p.(Arg1553Gln) associated with neurodevelopmental delay and cerebellar hypoplasia: Expanding the phenotypic spectrum.

European journal of medical genetics·2026
Same journal

Development of a predictive matrix for pre-test genetic counselling in inherited retinal diseases based on data from 1001 patients enrolled in the IRD-PT registry.

European journal of medical genetics·2026
Same journal

Genotype before phenotype? Reversing the diagnostic odyssey in genomic medicine.

European journal of medical genetics·2026
See all related articles

Related Experiment Video

Updated: Jun 21, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Interpreting humanity's genes.

Adam C Shaw1, Raoul C M Hennekam

  • 1Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London, UK. a.shaw@ich.ucl.ac.uk

European Journal of Medical Genetics
|August 15, 2009
PubMed
Summary
This summary is machine-generated.

Genetic medicine advances with new technologies like sequencing. Human observational studies are crucial to understand gene function and interpret genetic variations.

More Related Videos

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

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

Related Experiment Videos

Last Updated: Jun 21, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

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

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

Area of Science:

  • Genetics
  • Genomics
  • Human Biology

Background:

  • Genetic medicine is rapidly advancing due to technological breakthroughs.
  • High-resolution array techniques and next-generation sequencing have significantly enhanced genetic testing capabilities.
  • Despite advancements, the functional roles of most human genes remain largely uncharacterized.

Purpose of the Study:

  • To highlight the urgent need for human observational studies.
  • To emphasize the importance of systematically recording human phenotype data.
  • To address the challenge of interpreting molecular genetic variation.

Main Methods:

  • Review of recent technological developments in genetic testing.
  • Discussion of limitations in current gene function research (laboratory and animal models).
  • Advocacy for human-based observational studies.

Main Results:

  • Technological progress in genetic testing is substantial.
  • Current research methods are insufficient to fully understand complex gene expression.
  • A significant gap exists in interpreting molecular genetic variation.

Conclusions:

  • Human observational studies are essential for advancing genetic medicine.
  • Systematic collection of human phenotype data is critical.
  • Understanding gene function requires human-centric research approaches.