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

19.3K
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%...
19.3K
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

1.7K
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.
1.7K
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
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

19.8K
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,...
19.8K
Human Genetics01:28

Human Genetics

1.9K
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...
1.9K
Genome Copying Errors02:46

Genome Copying Errors

5.5K
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
5.5K

You might also read

Related Articles

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

Sort by
Same author

Dopaminergic neurons preferentially accumulate mtDNA rearrangements.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same author

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Human genetics·2026
Same author

Plasma proteomic profiles of Alzheimer's disease and neurodegeneration in African cohorts.

Nature communications·2026
Same author

Genetic survey of biomarkers at early and mid-pregnancy identifies pregnancy-specialized immune regulation.

PLoS genetics·2026
Same author

Prevalence of Phelan McDermid Syndrome Estimated To Be ~1:7300 Using a Multisource Model.

Autism research : official journal of the International Society for Autism Research·2026
Same author

Prenatal cell-free DNA methylome detects association with autism and maternal obesity.

Communications biology·2026

Related Experiment Video

Updated: Apr 1, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.6K

Deleterious coding variation associated with autism is shared across ancestries.

Marina Natividad Avila1,2,3,4,5,6, Seulgi Jung1,2,3,4,5,6, F Kyle Satterstrom7,8,9

  • 1Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Nature Medicine
|March 30, 2026
PubMed
Summary

This study analyzed over 15,000 individuals to identify autism spectrum disorder (ASD) genes in Latin American populations. The findings reveal consistent autism biology across diverse ancestries, supporting inclusive genetic research.

More Related Videos

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

819
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

2.8K

Related Experiment Videos

Last Updated: Apr 1, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.6K
Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

819
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

2.8K

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Population Genomics

Background:

  • Identifying genes for autism spectrum disorder (ASD) has largely focused on European ancestry.
  • This limits understanding of genetic liability across diverse global populations.
  • The Genomics of Autism in Latin American Ancestries (GALA) Consortium addresses this gap.

Purpose of the Study:

  • To conduct the largest sequencing study of autism in Latin American individuals.
  • To identify novel and confirm established autism-associated genes in this underrepresented population.
  • To assess the influence of ancestry on autism genetic liability.

Main Methods:

  • Whole-genome sequencing of over 15,000 individuals, including 4,717 with ASD diagnoses.
  • Genome-wide association analysis to identify significant autism-associated genes.
  • Comparison of findings with existing cohorts of European ancestry.

Main Results:

  • Identified 35 genome-wide significant autism-associated genes (FDR < 0.05).
  • Demonstrated substantial overlap in autism genes between Latin American and European cohorts.
  • Found highly constrained genes with consistent signals across populations, supporting conserved biological mechanisms.

Conclusions:

  • The genetic architecture of autism spectrum disorder is consistent across diverse populations.
  • Findings support the utility of genetic testing for deleterious variants in individuals from various backgrounds.
  • Emphasizes the critical need for more inclusive genetic research and testing to advance understanding of ASD.