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

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

19.4K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
19.4K
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

12.0K
The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
12.0K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.0K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
19.0K
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

4.9K
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
4.9K
Genetic Variation01:25

Genetic Variation

1.5K
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
1.5K
Human Genetics01:28

Human Genetics

1.8K
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...
1.8K

You might also read

Related Articles

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

Sort by
Same author

Active substances were screened out from the volatile compounds of mulberry leaves that have an Oviposition-attracting effect on female Glyphodes pyloalis (Lepidoptera: Pyralidae).

Journal of economic entomology·2026
Same author

Optimal Exercise Modality and Dose to Alleviate Depressive and Anxiety Symptoms in Patients With Cancer: A Network Meta-Analysis and Dose-Response Study.

Psycho-oncology·2026
Same author

Supervised Small-Baseline and Large-Baseline Homography Learning With Diffusion-Based Data Generation.

IEEE transactions on pattern analysis and machine intelligence·2026
Same author

Optimal exercise modalities and doses for improving quality of life in patients with Parkinson's disease: a network meta-analysis and dose-response study.

Journal of neurology·2026
Same author

Integrated network pharmacology and experimental verification to reveal the mechanisms of curcumin in the treatment of colorectal cancer.

Frontiers in pharmacology·2026
Same author

Cluster training versus traditional resistance training on lower-limb muscle strength, jumping, and explosive power performance: a systematic review and meta-analysis.

BMC sports science, medicine & rehabilitation·2026
Same journal

Bioactive carbon dots from peony seed meal for nanomedicine via circular economy.

iScience·2026
Same journal

Genetic ablation of <i>Sfxn5</i> induces mitochondrial dysfunction and precipitates lethal metabolic crisis in mice.

iScience·2026
Same journal

Expansion, functional diversification, and gene fusion events in the Ato protein family.

iScience·2026
Same journal

The pro-inflammatory cytokines IFN-α and TNF-α inhibit organoid-derived extravillous trophoblast invasion.

iScience·2026
Same journal

Urbanization compound pathways of global lung cancer incidence risk under proximal and distal interactions.

iScience·2026
Same journal

Capsid and integrase play essential apposing roles in viral ribonucleoprotein assembly during HIV-1 core morphogenesis.

iScience·2026
See all related articles

Related Experiment Video

Updated: Mar 13, 2026

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

35.0K

CDsyn: A comprehensive database for deleterious human synonymous variation prediction.

Bing Zeng1,2,3,4, Ning An3,4, Siting Zhou1,2

  • 1Aier Academy of Ophthalmology, Central South University, No. 188, Furong South Road, Tianxin District, Changsha, Hunan 410004, P.R. China.

Iscience
|March 12, 2026
PubMed
Summary
This summary is machine-generated.

Synonymous variations significantly impact human diseases. A new database, CDsyn, aids in predicting deleterious synonymous variants, improving disease understanding and clinical variant prioritization.

Keywords:
biological databasegenomic analysismathematical biosciencessequence analysis

More Related Videos

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K
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

14.4K

Related Experiment Videos

Last Updated: Mar 13, 2026

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

35.0K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K
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

14.4K

Area of Science:

  • Genetics
  • Bioinformatics
  • Genomic Medicine

Background:

  • Synonymous variations were historically underestimated for their role in disease.
  • Emerging evidence highlights their significant impact on gene regulation and human diseases.

Purpose of the Study:

  • To develop a comprehensive database (CDsyn) for predicting deleterious synonymous variations.
  • To assess the significance and disease relevance of synonymous variations.
  • To improve the understanding of synonymous variations in human diseases.

Main Methods:

  • CDsyn integrates six data categories: prediction scores, conservation, translation efficiency, sequence, population frequency, and annotations.
  • Emphasis on splicing mutation prediction scores for identifying pathogenic synonymous mutations.
  • Development of a pathogenicity prediction algorithm for synonymous variations using CDsyn.

Main Results:

  • The CDsyn-comprehensive approach outperformed existing databases (SynMICdb, dbDSM) and tools (InterVar).
  • Demonstrated the effectiveness of splicing mutation prediction in identifying pathogenic variants.
  • Validated the feasibility of a CDsyn-based pathogenicity prediction algorithm.

Conclusions:

  • CDsyn serves as a valuable resource for prioritizing deleterious variants in clinical sequencing.
  • Highlights the critical role of synonymous variations in human disease.
  • Enhances the understanding and clinical utility of synonymous variation analysis.