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

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.5K
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%...
18.5K
Improving Translational Accuracy02:07

Improving Translational Accuracy

14.0K
Base complementarity between the three base pairs of mRNA codon and the tRNA anticodon is not a failsafe mechanism. Inaccuracies can range from a single mismatch to no correct base pairing at all. The free energy difference between the correct and nearly correct base pairs can be as small as 3 kcal/ mol. With complementarity being the only proofreading step, the estimated error frequency would be one wrong amino acid in every 100 amino acids incorporated. However, error frequencies observed in...
14.0K
Improving Translational Accuracy02:07

Improving Translational Accuracy

3.5K
3.5K
Classification of Neurotransmitters01:30

Classification of Neurotransmitters

4.9K
Neurotransmitters play a crucial role in the communication between neurons in the autonomic nervous system. Neurons in the autonomic nervous system can be cholinergic or adrenergic depending on the neurotransmitters synthesized. Cholinergic neurons use acetylcholine as their primary neurotransmitter. This includes all the preganglionic fibers of the sympathetic and pre- and postganglionic fibers of the parasympathetic nervous systems. In addition, neurons of the somatic nervous system also use...
4.9K
Quantifying Work02:30

Quantifying Work

23.7K
As a system undergoes a change, its internal energy can change, and energy can be transferred from the system to the surroundings, or from the surroundings to the system.
23.7K
Multi-input and Multi-variable systems01:22

Multi-input and Multi-variable systems

358
Cruise control systems in cars are designed as multi-input systems to maintain a driver's desired speed while compensating for external disturbances such as changes in terrain. The block diagram for a cruise control system typically includes two main inputs: the desired speed set by the driver and any external disturbances, such as the incline of the road. By adjusting the engine throttle, the system maintains the vehicle's speed as close to the desired value as possible.
In the absence of...
358

You might also read

Related Articles

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

Sort by
Same author

Design, synthesis, and biological evaluation of novel selenium-matrine hybrid compounds as topo I -targeted anticancer agents.

Bioorganic chemistry·2026
Same author

Armadillo-inspired active morphing skeletons for soft machines.

Science advances·2026
Same author

Multiplex networks-based directed graph neural network for cancer driver gene identification.

PLoS computational biology·2026
Same author

Perception and Practices Regarding Muscle Loss Protection in Childhood Cancer Patients: A National Survey of Chinese Pediatric Oncologists in China.

Journal of nutrition and metabolism·2026
Same author

Multi-scale structural design of electromagnetic wave absorbers: pathways to improved performance.

Materials horizons·2026
Same author

Correction: Hydroxysafflor yellow a attenuates sepsis-induced intestinal barrier dysfunction by modulating Bcl-2/SOD2-mediated mitochondrial apoptosis.

Frontiers in pharmacology·2026

Related Experiment Video

Updated: Jan 4, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.3K

Quantifying functional impact of non-coding variants with multi-task Bayesian neural network.

Chencheng Xu1,2, Qiao Liu1,3, Jianyu Zhou1,2

  • 1Bioinformatics Division, BNRIST.

Bioinformatics (Oxford, England)
|November 7, 2019
PubMed
Summary

MtBNN, a novel Bayesian deep learning framework, accurately quantifies the impact of genetic variants in non-coding regions. This tool aids in identifying disease-associated single nucleotide polymorphisms (SNPs) and fine-mapping genome-wide association studies (GWAS).

More Related Videos

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
03:37

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers

Published on: March 1, 2024

1.2K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.4K

Related Experiment Videos

Last Updated: Jan 4, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.3K
Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
03:37

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers

Published on: March 1, 2024

1.2K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.4K

Area of Science:

  • Genomics
  • Computational Biology
  • Bioinformatics

Background:

  • Advances in high-throughput sequencing highlight the critical roles of non-coding genomic regions in gene regulation.
  • Genome-wide association studies (GWAS) identify numerous risk variants in non-coding regions, but their functional impact remains largely unexplained.
  • Current computational methods struggle to accurately prioritize regulatory variants, especially when integrating large-scale multi-omic data.

Purpose of the Study:

  • To develop a novel multi-task framework, MtBNN, for quantifying the deleterious impact of single nucleotide polymorphisms (SNPs) in non-coding genomic regions.
  • To improve the accuracy of predicting functional effects of cis-regulatory variations by integrating diverse data sources.
  • To aid in the discovery and fine-mapping of disease-associated SNPs identified through GWAS.

Main Methods:

  • Developed a multi-task Bayesian deep neural network (MtBNN) framework.
  • Integrated genomic sequence data with large-scale chromatin-profiling data, including chromatin accessibility and transcription factor binding affinities.
  • Quantified the probability of non-coding variants disrupting regulatory activities.

Main Results:

  • MtBNN accurately quantifies the functional impact of cis-regulatory variations, including expression quantitative trait loci (eQTL) and DNase I sensitivity quantitative trait loci (dqTL).
  • Demonstrated superior performance compared to existing methods in predicting functional genetic variants within ATAC-peaks.
  • Showcased the utility of MtBNN in identifying potentially causal disease-associated SNPs and fine-mapping GWAS results.

Conclusions:

  • MtBNN provides a highly accurate and efficient method for assessing the functional impact of non-coding genetic variants.
  • The framework's ability to integrate multi-omic data enhances the interpretation of regulatory elements and their role in human diseases.
  • MtBNN offers a valuable tool for advancing precision medicine by improving SNP prioritization and disease gene discovery.