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

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%...
Single Nucleotide Polymorphisms-SNPs01:05

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,...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
Genome-wide Association Studies-GWAS01:11

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...
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...

You might also read

Related Articles

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

Sort by
Same author

Blood fatty acid changes in preterm infants in a trial of enteral DHA supplementation.

Pediatric research·2026
Same author

A systematic review of spatial epidemiological modeling approaches applied during the COVID-19 pandemic.

BMC public health·2026
Same author

Management of neonatal massive hemorrhage: A narrative review.

Transfusion·2026
Same author

NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study.

BMJ open·2026
Same author

Lead poisoning in southeast Asia: an urgent call for action.

Lancet (London, England)·2026
Same author

Targeted Oxygen for Initial Resuscitation of Preterm Infants: The TORPIDO 30/60 Randomized Clinical Trial.

JAMA·2025
Same journal

Closely similar tacrolimus morning troughs and graft function across the recipients' common <i>ABCB1</i> polymorphisms (<i>c.2677G>T/A</i>, <i>c.1236C>T</i>, <i>c.3435C>T</i>) early after renal transplantation.

Pharmacogenomics·2026
Same journal

Pharmacogenomics for stratified antidepressant treatment in major depressive disorder: evidence, limits and a roadmap for clinical use.

Pharmacogenomics·2026
Same journal

Guidance from an informed public on collecting and sharing PGx test results for major depressive disorder: "It's no different from your blood type".

Pharmacogenomics·2026
Same journal

Optimizing pharmacogenomics workflows: a qualitative evaluation of clinical service delivery models.

Pharmacogenomics·2026
Same journal

Combinations of single gene predictors with AI-driven polygenic precision therapies in cardiovascular diseases.

Pharmacogenomics·2026
Same journal

Practical guide to implementing pre-emptive pharmacogenetic screening in routine pediatric oncology care.

Pharmacogenomics·2026
See all related articles

Related Experiment Video

Updated: May 13, 2026

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

Two algorithms for biospecimen comparison and differentiation using SNP genotypes.

Scott Morris1, Esma S Gel, Jordan V Smith

  • 1International Genomics Consortium, Suite 300, 445 North 5th Street, Phoenix, AZ 85004, USA. smorris@intgen.org

Pharmacogenomics
|February 27, 2013
PubMed
Summary
This summary is machine-generated.

We developed two algorithms to verify specimen relationships in biobanks using SNP genotype data. These objective, high-throughput tools accurately confirm sample identities, improving biobank data integrity.

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

Related Experiment Videos

Last Updated: May 13, 2026

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

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Area of Science:

  • Genomics
  • Biobanking
  • Bioinformatics

Background:

  • Biobanks require robust methods to verify specimen relationships for data integrity.
  • Existing methods for relationship verification can be subjective and time-consuming.

Purpose of the Study:

  • To present two novel algorithms for objective, high-throughput verification of specimen relationships in biobanks.
  • To compare single nucleotide polymorphism (SNP) genotype patterns for accurate sample identification.

Main Methods:

  • Developed two algorithms: one for de novo relationship construction across a biobank, and another for paired DNA verification in oncology.
  • Evaluated algorithms using an internal dataset (n=1504) and an external validation dataset (n=1457).

Main Results:

  • The algorithms demonstrated high accuracy in verifying specimen relationships.
  • No errors were identified in sample relationship interpretation within the validation dataset compared to manual review.

Conclusions:

  • The developed algorithms provide an efficient and objective method for automated data analysis in biobanks.
  • These tools address a current gap in establishing and verifying specimen relationships, enhancing biobank data quality.