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

Karyotyping01:17

Karyotyping

61.0K
Overview
61.0K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.1K
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,...
15.1K
Genomics02:02

Genomics

36.4K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
36.4K
Labeling DNA Probes03:31

Labeling DNA Probes

8.2K
DNA probes are fragments of DNA labeled with a reporter tag to enable their detection or purification. The resulting labeled DNA probes can then hybridize to target nucleic acid sequences through complementary base-pairing, and may be used to recover or identify these regions.
Radioisotopes, fluorophores, or small molecule binding partners like biotin or digoxigenin, are the most widely used reporter tags for labeling DNA probes. These labels can be attached to the probe DNA molecule via...
8.2K
Genome Annotation and Assembly03:36

Genome Annotation and Assembly

18.9K
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
18.9K
Sanger Sequencing01:57

Sanger Sequencing

754.5K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
754.5K

You might also read

Related Articles

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

Sort by
Same author

Inflammatory immune modulators of AML lung infiltration and respiratory failure.

Nature immunology·2026
Same author

Spatially segregated B- and T-lymphoblasts in mixed-phenotype acute leukemia with BCR::ABL1.

Journal of hematopathology·2026
Same author

Evaluation of prognostic factors and outcomes in primary versus secondary myeloid sarcoma.

Human pathology·2026
Same author

Chromoanagenesis in Myelodysplastic Syndromes Is Associated With Highly Complex Karyotype, TP53 Disruption and Dismal Prognosis.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc·2026
Same author

Analytical validation of a rapid next generation sequencing-based liquid biopsy assay using fine needle aspiration supernatants for clinical use.

Journal of the American Society of Cytopathology·2026
Same author

Niche-level immune evasion in <i>TP53</i> mutant AML residual disease revealed by spatial proteomics.

bioRxiv : the preprint server for biology·2026
Same journal

Genomic Organization of Ribosomal DNA and Karyotypic Diversity in Vicia sativa and Vicia villosa.

Cytogenetic and genome research·2026
Same journal

George Martin and Werner's Syndrome.

Cytogenetic and genome research·2026
Same journal

The Spectrum of Mosaic Double Aneuploidy of Monosomy X and Trisomy 18: Two New Cases and Review of the Literature.

Cytogenetic and genome research·2026
Same journal

Familial Robertsonian Translocation, rob(14;21), with High Risk for Down Syndrome.

Cytogenetic and genome research·2026
Same journal

Radiosensitivity and Bystander Response in X-Ray-Irradiated Tumour and Normal Epithelial Cells of Breast and Prostate Origin.

Cytogenetic and genome research·2026
Same journal

Cytogenetic Profile of Acute Lymphoblastic Leukaemia in South India: A Series of 1,819 Patients from a Single Centre.

Cytogenetic and genome research·2026
See all related articles

Related Experiment Video

Updated: Jul 8, 2025

Fluorescence-microscopy Screening and Next-generation Sequencing: Useful Tools for the Identification of Genes Involved in Organelle Integrity
12:42

Fluorescence-microscopy Screening and Next-generation Sequencing: Useful Tools for the Identification of Genes Involved in Organelle Integrity

Published on: April 13, 2012

12.4K

Genome Mapping Nomenclature.

Sarah Moore1, Jean McGowan-Jordan2, Adam C Smith3

  • 1Genetics and Molecular Pathology, SA Pathology, SA Genomics Health Alliance, Adelaide, South Australia, Australia.

Cytogenetic and Genome Research
|December 10, 2023
PubMed
Summary
This summary is machine-generated.

Genome mapping technology detects structural variations in DNA for genetic disorder diagnosis. A standardized nomenclature is crucial for accurate reporting and global understanding of findings.

Keywords:
Chromosome abnormalitiesFusion geneGenome mappingISCNNomenclatureOGM

More Related Videos

Mapping Mammalian 3D Genome Interactions with Micro-C-XL
11:41

Mapping Mammalian 3D Genome Interactions with Micro-C-XL

Published on: November 3, 2023

2.5K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.8K

Related Experiment Videos

Last Updated: Jul 8, 2025

Fluorescence-microscopy Screening and Next-generation Sequencing: Useful Tools for the Identification of Genes Involved in Organelle Integrity
12:42

Fluorescence-microscopy Screening and Next-generation Sequencing: Useful Tools for the Identification of Genes Involved in Organelle Integrity

Published on: April 13, 2012

12.4K
Mapping Mammalian 3D Genome Interactions with Micro-C-XL
11:41

Mapping Mammalian 3D Genome Interactions with Micro-C-XL

Published on: November 3, 2023

2.5K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.8K

Area of Science:

  • Genomics
  • Cytogenetics
  • Bioinformatics

Background:

  • Genome mapping technologies utilize ultra-high molecular weight DNA to identify structural variations.
  • Applications include constitutional genetic disorders, hematological neoplasms, and solid tumors.
  • This technique offers advantages over array, karyotyping, and FISH by detecting more abnormalities in a single assay.

Purpose of the Study:

  • To establish a standardized nomenclature for reporting genome mapping findings.
  • To ensure accurate and consistent communication of results in clinical and research settings.
  • To address the need for specific nomenclature for the range of abnormalities detected by genome mapping.

Main Methods:

  • Description of a novel nomenclature system for genome mapping.
  • Explanation of general principles and specific examples for numerical and structural rearrangements.
  • Adherence to the International System for Human Cytogenomic Nomenclature (ISCN) guidelines.

Main Results:

  • Genome mapping can detect aneuploidy, balanced and unbalanced structural variations, and copy number changes.
  • The proposed nomenclature facilitates accurate reporting of these diverse abnormalities.
  • Standardization enhances the understanding of patient results across different healthcare providers and publications.

Conclusions:

  • A specific international nomenclature for genome mapping is essential for accurate reporting.
  • Standardized nomenclature ensures clear communication in publications and consistency in databases.
  • The developed nomenclature supports the accurate reporting of various genetic abnormalities detected by genome mapping.