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

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...

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%...

You might also read

Related Articles

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

Sort by

Same author

SiMSen-Seq STR sequencing across five laboratories enables lowered noise thresholds and improved allele calling.

Forensic science international. Genetics·2026

Same author

Evaluating relationship inference from low-quality DNA using a conditional simulation framework.

Forensic science international. Genetics·2026

Same author

Advancing forensic SNP typing: Insights from an interlaboratory study of the FORCE panel.

Forensic science international. Genetics·2026

Same author

Preparing for shotgun sequencing in forensic genetics - Benchmarking of tools for read mapping, genotype calling, and imputation.

Forensic science international. Genetics·2026

Same author

Swedish population data for 37 autosomal, 12 X-chromosomal and 23 Y-chromosomal STR loci.

International journal of legal medicine·2026

Same author

When DNA leads the way: The introduction of Forensic Investigative Genetic Genealogy in Sweden and its first use in Europe.

Forensic science international. Genetics·2026

Same journal

Tissue MicroRNAs in Arrhythmogenic Cardiomyopathy: A Systematic Review of Studies in Human Myocardium and Animal Models with Implications for Post-Mortem Molecular Diagnostics.

Genes·2026

Same journal

Genetic Variants and Dental Caries Susceptibility: An Umbrella Review and Multilevel Meta-Analysis.

Genes·2026

Same journal

Generative AI and Language Models in Human Genetics and Health: From Variant Interpretation to Clinical Decision Support.

Genes·2026

Same journal

Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.

Genes·2026

Same journal

Genetic Influence on LDL-Cholesterol Levels: Role of Polygenic Risk Scores and Lp(a) Beyond Monogenic Hypercholesterolemia.

Genes·2026

Same journal

THBS1 as a Key Regulator of Myoblasts: Validation of Its Inhibitory Roles in Skeletal Muscle Development.

Genes·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Jun 6, 2025

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

SNP Genotype Imputation in Forensics-A Performance Study.

Andreas Tillmar^1,2, Daniel Kling^1,3

¹Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, SE-58758 Linköping, Sweden.

|November 27, 2024

Summary

This summary is machine-generated.

Genotype imputation can improve forensic SNP datasets by predicting missing genotypes, but accuracy depends on data quality and reference population. Optimizing imputation is key for forensic applications.

Keywords:

forensic genetics forensic investigative genetic genealogy kinship analysis

More Related Videos

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

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

Published on: June 21, 2018

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Related Experiment Videos

Last Updated: Jun 6, 2025

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

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

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

Published on: June 21, 2018

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Area of Science:

Forensic Genetics
Bioinformatics
Genomics

Background:

Emerging forensic genetic applications require dense SNP genotype data.
Forensic DNA often has missing genotypes due to quality and quantity issues.
Genotype imputation is established in other fields but underexplored in forensics.

Purpose of the Study:

Assess the performance of genotype imputation in forensic contexts.
Determine optimal conditions for effective genotype imputation in forensic genetics.

Main Methods:

Simulated realistic forensic SNP genotype datasets with varied quality and density.
Utilized Beagle software for genotype imputation.
Evaluated imputation performance via call rate and accuracy across different settings.

Main Results:

Genotype imputation significantly increases the number of available SNP genotypes.
Imputation accuracy is influenced by original data quality and reference population characteristics.
Higher SNP density and fewer genotype errors correlate with improved imputation accuracy.

Conclusions:

Genotype imputation holds potential for enhancing forensic SNP datasets.
Optimizing imputation parameters and understanding data limitations are crucial.
Findings support integrating genotype imputation into forensic genetic workflows.