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

1.9K
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...
1.9K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

77
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...
77
Genomics02:02

Genomics

41.7K
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...
41.7K
Genetic Screens02:46

Genetic Screens

5.9K
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...
5.9K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

16.6K
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...
16.6K
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

109
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...
109

You might also read

Related Articles

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

Sort by
Same author

FABIAN-variant 2026: improved prediction of the effects of DNA variants on transcription factor binding.

Nucleic acids research·2026
Same author

In-depth Human Phenotype Ontology Curation Boosts Prioritization Performance for Netherton Syndrome.

The British journal of dermatology·2026
Same author

Data-driven prioritization of mouse strains for improved preclinical modeling of rare and common disease.

bioRxiv : the preprint server for biology·2026
Same author

Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing.

HGG advances·2026
Same author

Familial Robertsonian Translocation, rob(14;21), with High Risk for Down Syndrome.

Cytogenetic and genome research·2026
Same author

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.

European journal of human genetics : EJHG·2026
Same journal

Genetic analysis of imaging-derived phenotypes.

Nature reviews. Genetics·2026
Same journal

Genetic origins and constraints of evolutionary innovation.

Nature reviews. Genetics·2026
Same journal

Single-cell four-omics with CHARM.

Nature reviews. Genetics·2026
Same journal

Molecular integration of seasonal temperature signals in flowering time control.

Nature reviews. Genetics·2026
Same journal

RBPscan measures protein-RNA interactions in living cells.

Nature reviews. Genetics·2026
Same journal

Revisiting retinal and macular degeneration in the genomics era.

Nature reviews. Genetics·2026
See all related articles

Related Experiment Video

Updated: Mar 30, 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

10.6K

Human genotype-phenotype databases: aims, challenges and opportunities.

Anthony J Brookes1,2, Peter N Robinson3,4,5

  • 1Department of Genetics, University of Leicester, Leicester LE1 7RH, UK.

Nature Reviews. Genetics
|November 11, 2015
PubMed
Summary
This summary is machine-generated.

Genotype-phenotype databases are integrating diverse genetic and health data. This shift presents new challenges and opportunities for database design and variant interpretation.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K
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

21.6K

Related Experiment Videos

Last Updated: Mar 30, 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

10.6K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.5K
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

21.6K

Area of Science:

  • Genomics and Bioinformatics
  • Human Genetics
  • Clinical Data Management

Background:

  • Genotype-phenotype databases are crucial for understanding genetic variation and its impact on health.
  • Current databases are diverse in type, focus, and operation, leading to data fragmentation.
  • Advances in sequencing and phenotyping technologies generate increasingly complex datasets.

Purpose of the Study:

  • To highlight the trend towards integrating disparate genotype-phenotype databases.
  • To discuss the challenges and opportunities arising from this integration.
  • To explore the implications for database design and variant interpretation.

Main Methods:

  • Review of existing genotype-phenotype database landscape.
  • Analysis of trends in data generation (sequencing, omics, phenotyping).
  • Examination of the shift from single-gene to large-scale genomic and phenotypic data.

Main Results:

  • Steady progress is being made in integrating genotype-phenotype databases.
  • The focus is shifting from single genes to comprehensive genomic and phenotypic data.
  • New challenges and opportunities are emerging in database design and data interpretation.

Conclusions:

  • Integration of genotype-phenotype databases is a key trend in biomedical research.
  • Adapting database design and interpretation methods is essential for leveraging large-scale genetic and phenotypic data.
  • This integration facilitates a more holistic understanding of genotype-phenotype relationships for research and healthcare.