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

18.5K
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%...
18.5K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

17.7K
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,...
17.7K
DNA Microarrays02:34

DNA Microarrays

20.4K
Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
20.4K

You might also read

Related Articles

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

Sort by
Same author

Corrigendum to "DNA methylation profiling for a confirmatory test for blood, saliva, semen, vaginal fluid and menstrual blood" [Forensic Sci. Int. Genet. 24 (2016) 75-82].

Forensic science international. Genetics·2026
Same author

COSA: A consolidated methylation-based prediction panel for body fluid/tissue of origin, smoking status, and chronological age using amplicon-based massively parallel sequencing.

Forensic science international. Genetics·2026
Same author

Erratum to "Age prediction using DNA methylation of Y-chromosomal CpGs in semen samples" [Forensic Sci. Int.: Genet. 69 (2024) 103007].

Forensic science international. Genetics·2026
Same author

Y-CpG-based semen age prediction: analysis of vasectomized samples and development of an optimized multiplex assay evaluated in independent and mixed samples.

International journal of legal medicine·2026
Same author

A strategy for body fluid mixture analysis using semen- and epidermis-specific tDMRs and adjacent microhaplotypes/SNPs.

Forensic science international. Genetics·2026
Same author

Enhancing forensic casework interpretation through DNA methylation-based analysis: A case study of pooled blood samples.

Forensic science international. Genetics·2026

Related Experiment Video

Updated: Dec 24, 2025

Optimized Bone Sampling Protocols for the Retrieval of Ancient DNA from Archaeological Remains
06:18

Optimized Bone Sampling Protocols for the Retrieval of Ancient DNA from Archaeological Remains

Published on: November 30, 2021

4.8K

Large-scale identification of human bone remains via SNP microarray analysis with reference SNP database.

Sohee Cho1, Moon-Young Kim1, Ji Hyun Lee2

  • 1Institute of Forensic and Anthropological Science, Seoul National University College of Medicine, Seoul, South Korea.

Forensic Science International. Genetics
|April 11, 2020
PubMed
Summary

Single nucleotide polymorphism (SNP) typing successfully identified 51 additional human bone remains in a large-scale forensic case, complementing traditional short tandem repeat (STR) methods for enhanced genetic identification.

Keywords:
Human bone remainsHuman identificationKinship analysisResequencing arraySingle nucleotide polymorphism

More Related Videos

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

39.7K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.5K

Related Experiment Videos

Last Updated: Dec 24, 2025

Optimized Bone Sampling Protocols for the Retrieval of Ancient DNA from Archaeological Remains
06:18

Optimized Bone Sampling Protocols for the Retrieval of Ancient DNA from Archaeological Remains

Published on: November 30, 2021

4.8K
Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

39.7K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.5K

Area of Science:

  • Forensic genetics
  • Human identification
  • Molecular biology

Background:

  • Single nucleotide polymorphisms (SNPs) offer advantages over traditional short tandem repeat (STR) markers in forensic casework.
  • High-throughput technologies have enabled large-scale forensic applications of SNP typing.
  • Effective identification of mass human remains is crucial in disaster scenarios.

Purpose of the Study:

  • To demonstrate the utility of SNP typing in identifying large-scale human bone remains.
  • To showcase the construction of a reference database for forensic genetic analysis.
  • To evaluate SNP typing as a supplementary tool for challenging forensic cases.

Main Methods:

  • Conventional DNA typing (autosomal and Y-chromosomal STR, mitochondrial DNA sequencing) was performed.
  • SNP typing using an Affymetrix resequencing array was employed for unidentified remains.
  • A reference database was constructed using SNP markers from 782 family members.

Main Results:

  • Conventional methods identified 74 of 402 remains.
  • SNP typing identified an additional 51 bone remains.
  • SNP data facilitated kinship testing and resolved ambiguous relationships.

Conclusions:

  • SNP typing is a valuable supplementary tool for large-scale forensic identification.
  • SNP analysis enhances genetic information and aids in kinship determination.
  • Developed software enables efficient kinship analysis for mass identification cases.