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Related Concept Videos

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...
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,...
Pedigree Analysis01:35

Pedigree Analysis

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Related Experiment Video

Updated: Jun 16, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Haploview: Visualization and analysis of SNP genotype data.

Jeffrey C Barrett

    Cold Spring Harbor Protocols
    |February 12, 2010
    PubMed
    Summary

    Haploview is a user-friendly software package that simplifies complex genetic association studies. It aids in analyzing large datasets, selecting tag single-nucleotide polymorphisms (SNPs), and evaluating genotype data quality for improved research efficiency.

    Area of Science:

    • Genetics and Genomics
    • Bioinformatics and Computational Biology
    • Statistical Genetics

    Background:

    • Association studies require extensive data analysis, often spanning months.
    • Large-scale genetic variation data (e.g., International HapMap Project) and single-nucleotide polymorphism (SNP) genotyping data present analysis challenges.
    • Efficient curation and analysis of large genetic datasets are crucial for advancing association studies.

    Purpose of the Study:

    • To introduce Haploview, a software package designed to streamline genetic association study workflows.
    • To demonstrate the utility of Haploview across various stages of an association study, from design to execution.
    • To provide a practical guide for researchers utilizing Haploview for data analysis and interpretation.

    Main Methods:

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

    Infinium Assay for Large-scale SNP Genotyping Applications

    Published on: November 19, 2013

    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

    • Utilized Haploview software for data analysis tasks.
    • Demonstrated Haploview's application in analyzing International HapMap Project data.
    • Illustrated the use of Haploview for selecting tag-SNPs and evaluating genotype data quality.

    Main Results:

    • Haploview effectively bundles common analysis tasks into an accessible package.
    • The software facilitates the analysis of HapMap data and the selection of tag-SNPs.
    • Haploview aids in assessing disease genotype data quality, testing for associations, and evaluating regions for follow-up.

    Conclusions:

    • Haploview is a valuable tool for researchers conducting genetic association studies.
    • The software enhances efficiency and ease of use in analyzing large-scale genetic datasets.
    • Haploview supports critical phases of association studies, including data quality control, association testing, and follow-up analysis.