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Related Concept Videos

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,...
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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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Related Experiment Video

Updated: May 15, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

SNPTrack™ : an integrated bioinformatics system for genetic association studies.

Joshua Xu, Reagan Kelly, Guangxu Zhou

    Human Genomics
    |December 19, 2012
    PubMed
    Summary

    SNPTrack is a free bioinformatics system from the FDA that streamlines genetic association studies. It integrates data management, analysis, and interpretation for pharmacogenetics research.

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    Area of Science:

    • Bioinformatics
    • Pharmacogenetics
    • Genomics

    Background:

    • Genetic association studies require complex data management and analysis.
    • Interpreting genetic biomarkers is crucial for understanding disease and drug response.
    • Existing tools often lack integration, complicating the bioinformatics workflow.

    Purpose of the Study:

    • To introduce SNPTrack, an integrated bioinformatics system developed by the US Food and Drug Administration (FDA).
    • To provide a comprehensive platform for managing, analyzing, and interpreting pharmacogenetics data for genetic association studies.
    • To facilitate the entire bioinformatics pipeline for genetic association studies.

    Main Methods:

    • SNPTrack integrates data management, analysis, and interpretation into a single platform.
    • It utilizes an Oracle database to store genotyping data, single-nucleotide polymorphism (SNP) annotations, and study design data.
    • The system integrates popular genetic analysis tools like PLINK and Haploview.
    • It captures analysis results and links them to biological annotations for interpretation.

    Main Results:

    • SNPTrack offers a unified system for the complete bioinformatics workflow of genetic association studies.
    • It enhances the efficiency of analyzing and interpreting pharmacogenetics data.
    • The system supports cross-linking of results to gene/protein annotations, Gene Ontology, and pathway analysis data.

    Conclusions:

    • SNPTrack provides a valuable, integrated solution for genetic association studies.
    • The system simplifies complex bioinformatics tasks, making them accessible to researchers.
    • SNPTrack is freely available to the public, promoting wider use in pharmacogenetics research.