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 Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

3.7K
3.7K
Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

8.3K
The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
8.3K
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

7.8K
Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
7.8K
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
Incomplete Dominance01:43

Incomplete Dominance

30.5K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
30.5K
Pleiotropy01:33

Pleiotropy

43.6K
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,...
43.6K

You might also read

Related Articles

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

Sort by
Same author

Steroid Hormone Changes after Short-Term High-Dose Exposure to Cannabidiol in Healthy Subjects: An Exploratory Study.

Medical cannabis and cannabinoids·2026
Same author

MMTF-DTI: Drug-target interaction prediction via multimodal feature extraction and dynamic fusion.

Journal of biomedical informatics·2026
Same author

SIRT5 mediates the pro-osteogenic effects of estrogen through FDX1 demalonylation and cuproptosis inhibition in mesenchymal stem cells.

Genes & diseases·2026
Same author

RPI-PLMGNN: Enhancing RNA-Protein Interaction Prediction with the Pretrained Large Language Models and Graph Neural Networks.

ACS synthetic biology·2026
Same author

Impact of intraoperative dexmedetomidine on postoperative outcomes in shoulder arthroscopy: a systematic review and meta-analysis.

BMC anesthesiology·2026
Same author

Cross trait analysis reveals shared genetic architecture of eight common female reproductive disorders.

Communications biology·2026

Related Experiment Video

Updated: Feb 24, 2026

Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization
03:08

Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization

Published on: October 3, 2025

1.0K

Het2Gene: a phenotype-driven model for gene prioritization by heterogeneous graph embedding.

Buchao Zhan1, Xin Yang1, Dongmei He1

  • 1School of Computer Science and Technology, Hainan University, Hainan, 570228, China.

Computers in Biology and Medicine
|February 22, 2026
PubMed
Summary
This summary is machine-generated.

Identifying disease-causing genes is vital. A new framework, Het2Gene, improves gene prioritization from sequencing data by considering network information and disease frequency.

Keywords:
Disease diagnosisGraph machine learningHeterogeneous networkHuman Phenotype Ontology (HPO)

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

21.4K
Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.8K

Related Experiment Videos

Last Updated: Feb 24, 2026

Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization
03:08

Using Human Differentially Expressed Gene Lists to Perform Downstream Pathway Enrichment Analysis and Target Prioritization

Published on: October 3, 2025

1.0K
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

21.4K
Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
08:03

Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations

Published on: December 7, 2021

2.8K

Area of Science:

  • Genomics
  • Computational Biology
  • Medical Genetics

Background:

  • Mendelian genetic diseases represent a substantial global health challenge.
  • Accurate identification of causative genes is essential for effective treatment and disease management.
  • Current diagnostic methods using next-generation sequencing (NGS) data are often time-consuming and face limitations in pinpointing causal genes.

Purpose of the Study:

  • To develop a novel computational framework, Het2Gene, for enhanced prioritization of candidate genes implicated in Mendelian genetic diseases.
  • To address limitations in existing phenotype-driven models, particularly their neglect of biological network heterogeneity and real-world clinical case frequencies.

Main Methods:

  • Proposed Het2Gene, a framework utilizing a weight-aware Meta-path2Vec algorithm for learning phenotype-gene embeddings from heterogeneous biological networks.
  • Generated heterogeneous random walk paths guided by clinical case data, dynamically assigning adaptive weights to prioritize biologically relevant relationships.
  • Employed a novel approach to integrate heterogeneous network information and disease prevalence data for improved candidate gene ranking.

Main Results:

  • Het2Gene demonstrated superior performance in causal gene prioritization compared to existing state-of-the-art models on benchmark datasets.
  • The framework exhibited robust cross-dataset generalization capabilities.
  • Analysis of gene scores suggested Het2Gene's potential for discovering novel gene-disease associations.

Conclusions:

  • Het2Gene offers a significant advancement in computational approaches for identifying disease-causing genes.
  • The framework effectively leverages heterogeneous network information and clinical case data for more accurate gene prioritization.
  • Het2Gene shows promise in accelerating genetic disease diagnosis and potentially uncovering new genetic links to diseases.