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

Next-generation Sequencing03:00

Next-generation Sequencing

92.6K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
92.6K
RNA-seq03:21

RNA-seq

10.4K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
10.4K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.2K
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...
14.2K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.9K
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%...
17.9K

You might also read

Related Articles

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

Sort by
Same author

Endometrial Microbiome Profiles in Women Evaluated for Infertility or Recurrent Miscarriage: A Single-Center Descriptive Study.

Diagnostics (Basel, Switzerland)·2026
Same author

The Microbiome-Mitochondria-Extracellular Vesicle Axis in HPV Persistence and Cervical Carcinogenesis.

Genes·2026
Same author

Management of Hereditary Hypofibrinogenemia During Pregnancy: A Scoping Review Towards Personalized Obstetric Care.

Journal of clinical medicine·2026
Same author

Psychological Experiences of Pregnancy Following Transplantation: A Systematic Qualitative Review.

Medicina (Kaunas, Lithuania)·2026
Same author

Epigenetics, Oxidative Stress, and the Microbiome in Endometriosis: Toward an Integrated Mechanistic Framework for Precision Medicine.

Journal of personalized medicine·2026
Same author

Investigating the Demographic Foundation of Fertility: Temporal Trends in the Female Population of Reproductive Age in Greece, 1956-2024.

Cureus·2026

Related Experiment Video

Updated: Sep 13, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.3K

Long-Read Sequencing and Structural Variant Detection: Unlocking the Hidden Genome in Rare Genetic Disorders.

Efthalia Moustakli1, Panagiotis Christopoulos2, Anastasios Potiris3

  • 1Laboratory of Medical Genetics, Faculty of Medicine, School of Health Sciences, University of Ioannina, 451 10 Ioannina, Greece.

Diagnostics (Basel, Switzerland)
|July 29, 2025
PubMed
Summary
This summary is machine-generated.

Long-read sequencing accurately detects rare genetic disease-causing structural variants (SVs) missed by short-read methods. This technology is revolutionizing rare disease diagnostics and offers new insights into genetic conditions.

Keywords:
bioinformaticsclinical genomicscopy number variationsgenetic diagnosisgenome sequencingmachine learningstructural variants

More Related Videos

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

26.0K
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

34.0K

Related Experiment Videos

Last Updated: Sep 13, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.3K
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

26.0K
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

34.0K

Area of Science:

  • Genomics
  • Molecular Diagnostics
  • Bioinformatics

Background:

  • Rare genetic diseases are frequently caused by structural variants (SVs).
  • Short-read sequencing technologies have limitations in detecting complex SVs, leading to underdiagnosis.
  • Advancements in long-read sequencing offer improved detection of SVs across the genome.

Purpose of the Study:

  • To highlight the critical role of long-read sequencing in diagnosing rare genetic diseases.
  • To review bioinformatics tools for SV detection and interpretation.
  • To assess the clinical potential of long-read sequencing for rare disease diagnostics.

Main Methods:

  • Review of comprehensive methods including methylation profiling, RNA-seq, phasing, and long-read sequencing.
  • Assessment of bioinformatics tools such as Sniffles2, SVIM, and cuteSV.
  • Illustration through case studies of successful SV detection and diagnosis.

Main Results:

  • Long-read sequencing accurately identifies SVs, including in challenging genomic regions.
  • Case studies demonstrate the power of long-read sequencing in solving previously undiagnosed rare diseases.
  • The study confirms the transformative potential of long-read sequencing in molecular diagnostics.

Conclusions:

  • Long-read sequencing is a powerful tool for diagnosing rare genetic diseases caused by SVs.
  • Bioinformatics tools are essential for interpreting SV data generated by long-read sequencing.
  • Despite challenges like cost and computational complexity, long-read sequencing is poised to revolutionize rare disease diagnostics.