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

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

176
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
176
Organization of Genes02:07

Organization of Genes

68.8K
Overview
68.8K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.7K
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...
13.7K
Human Genetics01:28

Human Genetics

641
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...
641
lncRNA - Long Non-coding RNAs02:39

lncRNA - Long Non-coding RNAs

8.7K
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
8.7K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.8K
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%...
17.8K

You might also read

Related Articles

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

Sort by
Same author

Non-coding Regulatory Variants in ASD (Autism Spectrum Disorders) Disrupt CTCF Domains and Shape Cell-Type-Specific Neurodevelopmental Landscapes Revealed by Single-Cell Analyses and Cortical Organoids.

Research square·2026
Same author

DNA tests for ancestry and phenotype inference applied to the UK Metropolitan Police Operation Minstead: The investigation of serial sex offender Delroy Grant.

Forensic science international. Genetics·2026
Same author

Loss of PGC1α drives extracellular matrix remodelling in prostate cancer through CTHRC1.

bioRxiv : the preprint server for biology·2026
Same author

Descriptive transcriptomic profiling differentiates oral leukoplakia from proliferative verrucous leukoplakia and reveals distinct molecular signatures.

Medicina oral, patologia oral y cirugia bucal·2025
Same author

Alternative splicing analysis in a Spanish ASD (Autism Spectrum Disorders) cohort: in silico prediction and characterization.

Scientific reports·2025
Same author

Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs).

Neurogenetics·2024
Same journal

New insights into the complex genetic architecture of age-related hearing loss.

European journal of medical genetics·2026
Same journal

Clinical and genetic spectrum of trichorhinophalangeal syndrome type I/III in 20 children of Korean origin.

European journal of medical genetics·2026
Same journal

Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy.

European journal of medical genetics·2026
Same journal

A novel de novo CACNA1G variant p.(Arg1553Gln) associated with neurodevelopmental delay and cerebellar hypoplasia: Expanding the phenotypic spectrum.

European journal of medical genetics·2026
Same journal

Development of a predictive matrix for pre-test genetic counselling in inherited retinal diseases based on data from 1001 patients enrolled in the IRD-PT registry.

European journal of medical genetics·2026
Same journal

Genotype before phenotype? Reversing the diagnostic odyssey in genomic medicine.

European journal of medical genetics·2026
See all related articles

Related Experiment Video

Updated: Aug 4, 2025

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

1.8K

The non-coding genome in Autism Spectrum Disorders.

S Dominguez-Alonso1, A Carracedo2, C Rodriguez-Fontenla1

  • 1Grupo de Medicina Xenómica, Center for Research in Molecular Medicine and Chronic Diseases (CiMUS), Universidad de Santiago de Compostela, Santiago de Compostela, Spain.

European Journal of Medical Genetics
|April 6, 2023
PubMed
Summary
This summary is machine-generated.

Investigating non-coding DNA alterations is crucial for understanding Autism Spectrum Disorders (ASD). This research explores how these genetic changes contribute to ASD pathogenesis and heritability.

Keywords:
Autism spectrum disorders (ASD)Gene regulationNeurodevelopmental disordersNon-coding genomeNon-coding variation

More Related Videos

Strategies for Assessing Autistic-Like Behaviors in Mice
07:38

Strategies for Assessing Autistic-Like Behaviors in Mice

Published on: September 20, 2024

1.1K
Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
10:47

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Published on: March 2, 2018

10.1K

Related Experiment Videos

Last Updated: Aug 4, 2025

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

1.8K
Strategies for Assessing Autistic-Like Behaviors in Mice
07:38

Strategies for Assessing Autistic-Like Behaviors in Mice

Published on: September 20, 2024

1.1K
Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
10:47

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs

Published on: March 2, 2018

10.1K

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Genomic Research

Background:

  • Autism Spectrum Disorders (ASD) are neurodevelopmental disorders impacting social interaction and communication.
  • While genetics play a role, research often overlooks non-coding DNA, which constitutes 99% of the genome.
  • Non-coding DNA is increasingly recognized for its contribution to ASD heritability.

Purpose of the Study:

  • To summarize the role of non-coding DNA alterations in ASD pathogenesis.
  • To provide an overview of methods for studying the functional relevance of non-coding regions.
  • To discuss strategies for understanding the 'missing heritability' in ASD.

Main Methods:

  • Review of current scientific literature on non-coding DNA and ASD.
  • Analysis of novel sequencing technologies for non-coding region studies.
  • Discussion of gene regulatory networks within non-coding DNA.

Main Results:

  • Non-coding DNA alterations are significant contributors to ASD heritability.
  • Novel sequencing technologies enable deeper investigation into non-coding regions.
  • Understanding non-coding variants is key to unraveling ASD's genetic complexity.

Conclusions:

  • Focusing on non-coding DNA is essential for advancing ASD research.
  • Functional studies of non-coding alterations are critical for understanding disease mechanisms.
  • Exploring non-coding regions offers pathways to explain ASD's heritability gap.