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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...
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%...
Statistical Package for the Social Sciences (SPSS)01:22

Statistical Package for the Social Sciences (SPSS)

The Statistical Package for the Social Sciences, or SPSS, is a data management and analysis software suite. Developed by SPSS Inc. in 1968 and acquired by IBM in 2009, this tool was initially designed for social science data analysis, evolving to serve a wider range of disciplines. It was later renamed to Statistical Product and Service Solutions.
SPSS streamlines the process from data preparation to analysis and reporting. It is characterized by its user-friendly interface, which conceals...

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Related Experiment Video

Updated: Jun 20, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

SNP databases.

Christopher Phillips1

  • 1Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Galicia, Spain.

Methods in Molecular Biology (Clifton, N.J.)
|September 22, 2009
PubMed
Summary
This summary is machine-generated.

Discover the best online databases for single nucleotide polymorphism (SNP) data. This guide helps researchers find crucial human genetics information for medical and population studies.

Related Experiment Videos

Last Updated: Jun 20, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Genetics
  • Bioinformatics

Background:

  • The human genome contains millions of characterized single nucleotide polymorphism (SNP) loci.
  • Access to comprehensive SNP data is crucial for various genetic research fields.

Purpose of the Study:

  • To describe major online SNP databases available for human genetics research.
  • To provide strategies for effectively querying these databases for specific information.

Main Methods:

  • Review of currently available major SNP databases.
  • Outline of query formulation tools and strategies for data retrieval.

Main Results:

  • A wealth of freely accessible data exists for a substantial proportion of human SNPs.
  • Researchers can effectively access detailed SNP information for their specific research needs.

Conclusions:

  • The current era offers unprecedented access to human SNP data through online databases.
  • Strategic database querying is essential for leveraging this data in medical and population genetics.