Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

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%...

Autism Spectrum Disorder

Autism Spectrum Disorder

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.

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

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,...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

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...

You might also read

Related Articles

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

Sort by

Same author

Genotype-Phenotype Correlations in Phenylketonuria and Hyperphenylalaninemia: A Single-Center Study.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Same author

Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia.

International journal of laboratory hematology·2026

Same author

Mutation analysis of the <i>FOXL2</i> and <i>BMP15</i> genes in patients with premature ovarian insufficiency.

Turkish journal of obstetrics and gynecology·2026

Same author

Validity and reliability of the Pica, ARFID and Rumination Disorder Interview-ARFID Questionnaire (PARDI-AR-Q) in Turkish adolescents.

Journal of eating disorders·2026

Same author

High prevalence of avoidant/restrictive food ıntake disorder and psychiatric comorbidities in pediatric eosinophilic esophagitis.

European journal of pediatrics·2026

Same author

Novel Variants in PTPN11 , NF1 , RASA2 , and MAP2K1 : Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.

Clinical genetics·2026

Search research articles

Related Experiment Video

Updated: Jun 16, 2026

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

Published on: September 6, 2024

Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum

Mehmet Burak Mutlu¹, Özge Beyza Gündoğdu Öğütlü², Özlem Öz³

¹Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye.

|June 15, 2026

Summary

This summary is machine-generated.

Optical Genome Mapping (OGM) aids in diagnosing complex Autism Spectrum Disorder (ASD) cases. This genetic testing approach identified pathogenic variants in 23.5% of individuals with ASD and developmental delay/intellectual disability.

Keywords:

autism spectrum disorder copy-number variants cytogenomics neurodevelopmental disorders optical genome mapping repeat expansion structural variants

More Related Videos

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Related Experiment Videos

Last Updated: Jun 16, 2026

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

Published on: September 6, 2024

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Area of Science:

Genetics
Neurodevelopmental Disorders
Genomic Medicine

Background:

Autism Spectrum Disorder (ASD) involves social communication deficits and repetitive behaviors.
Genetic factors, including single-nucleotide variants (SNVs) and structural variants (SVs), contribute to ASD.
Complex ASD cases often present with developmental delay/intellectual disability (DD/ID) and other syndromic features.

Purpose of the Study:

To assess the diagnostic utility of Optical Genome Mapping (OGM) in a specialized cohort of individuals with complex ASD.
To evaluate OGM as a complementary cytogenomic tool for identifying genetic variants in ASD.

Main Methods:

Retrospective analysis of 34 individuals with ASD who underwent OGM.
Focus on a cohort enriched for complex ASD with DD/ID and/or additional neurodevelopmental or syndromic features.
Confirmation of OGM findings using orthogonal methods and segregation analyses where feasible.

Main Results:

Confirmed pathogenic (P) or likely pathogenic (LP) findings were identified in 7 of 34 individuals (20.6%).
A provisional P/LP finding was identified in one additional individual.
Overall, 8 of 34 individuals (23.5%) with complex ASD and DD/ID or other features had confirmed or provisional P/LP OGM findings.

Conclusions:

OGM demonstrates value in integrated genetic testing for complex ASD cases.
OGM is particularly useful when structural variants (SVs), complex chromosomal rearrangements, or FMR1 full-mutation repeat expansions are suspected.
OGM can provide diagnostic insights not resolved by conventional genetic approaches.