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

75
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...
75
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

106
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...
106
Polygenic Traits01:18

Polygenic Traits

70.3K
When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
70.3K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

86
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...
86
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
Pleiotropy01:33

Pleiotropy

44.0K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
44.0K

You might also read

Related Articles

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

Sort by
Same author

A pragmatist approach to bridging tables and ontologies through LinkML and punning.

Journal of biomedical semantics·2026
Same author

Multi-scale data improves performance of machine learning model for long COVID identification.

Communications medicine·2026
Same author

VO: The Vaccine Ontology.

Scientific data·2026
Same author

The Cell Ontology in the age of single-cell omics.

Scientific data·2026
Same author

OpenScientist: evaluating an open agentic AI co-scientist to accelerate biomedical discovery.

medRxiv : the preprint server for health sciences·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

The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.

Cold Spring Harbor molecular case studies·2024
Same journal

Common clonal origin of three distinct hematopoietic neoplasms in a single patient: B-cell lymphoma, T-cell lymphoma, and polycythemia vera.

Cold Spring Harbor molecular case studies·2024
Same journal

PD-L1<sup>+</sup> diffuse large B-cell lymphoma with extremely high mutational burden and microsatellite instability due to acquired <i>PMS2</i> mutation.

Cold Spring Harbor molecular case studies·2024
Same journal

Clinical and functional analysis of the germline <i>TP53</i> p.K164E acetylation site variant.

Cold Spring Harbor molecular case studies·2023
Same journal

Health supervision for children and adolescents with 16p11.2 deletion syndrome.

Cold Spring Harbor molecular case studies·2023
Same journal

Prostate cancer patient stratification by molecular signatures in the Veterans Precision Oncology Data Commons.

Cold Spring Harbor molecular case studies·2023
See all related articles

Related Experiment Video

Updated: Mar 21, 2026

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

Capturing phenotypes for precision medicine.

Peter N Robinson1, Christopher J Mungall2, Melissa Haendel3

  • 1Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany;; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany;; Berlin Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany;; Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, 14195 Berlin, Germany;

Cold Spring Harbor Molecular Case Studies
|May 6, 2016
PubMed
Summary
This summary is machine-generated.

Deep phenotyping and computational analysis are crucial for genomic diagnostics. A new journal will use Human Phenotype Ontology terms to improve searching and accessing phenotypic abnormality data for research and clinical care.

More Related Videos

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

21.5K
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

Related Experiment Videos

Last Updated: Mar 21, 2026

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
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

21.5K
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

Area of Science:

  • Genomic Medicine
  • Bioinformatics
  • Medical Informatics

Background:

  • Deep phenotyping and integrated computational analysis of genotype and phenotype are increasingly vital in genomic diagnostics and translational research.
  • Clinical descriptions in medical literature are predominantly unstructured natural language text, hindering efficient searching and data integration.
  • Accessing and analyzing medically relevant information from databases like PubMed presents significant challenges.

Purpose of the Study:

  • To address the challenges of searching and integrating phenotypic information from medical literature.
  • To establish a foundation for ontology-based indexing and searching of research articles.
  • To enhance the accessibility of critical biomedical information for researchers and clinicians.

Main Methods:

  • The journal Cold Spring Harbor Molecular Case Studies will mandate the selection of Human Phenotype Ontology (HPO) terms for submitted research papers.
  • These HPO terms will be displayed alongside the published manuscripts.
  • This approach facilitates structured data representation for phenotypic abnormalities.

Main Results:

  • Implementation of HPO terms provides a standardized vocabulary for describing phenotypic abnormalities.
  • This enables ontology-based indexing, improving the discoverability of relevant research.
  • Facilitates improved searching and integration of phenotypic data within biomedical databases.

Conclusions:

  • Requiring HPO terms in publications is a significant advancement for biomedical information retrieval.
  • This strategy enhances the ability of researchers and clinicians to access critical data for clinical care and translational research.
  • Promotes more effective utilization of medical literature for genomic diagnostics and research.