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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,...
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...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...

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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

Perspectives on human genetic variation from the HapMap Project.

Gil McVean1, Chris C A Spencer, Raphaelle Chaix

  • 1Department of Statistics, University of Oxford, Oxford, United Kingdom. mcvean@stats.ox.ac.uk

Plos Genetics
|October 29, 2005
PubMed
Summary
This summary is machine-generated.

The International HapMap Project characterized human genetic variation across populations. This resource aids genome-wide association studies by detailing single nucleotide polymorphisms (SNPs) and linkage disequilibrium.

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Area of Science:

  • Human Genetics
  • Population Genetics
  • Genomics

Background:

  • The International HapMap Project aimed to create a public resource for human genetic variation.
  • Understanding genetic diversity is crucial for advancing human genetics research.
  • Previous knowledge of human genetic variation was limited for large-scale studies.

Purpose of the Study:

  • To characterize patterns of genetic variation and linkage disequilibrium in human populations.
  • To provide a comprehensive map of single nucleotide polymorphisms (SNPs) across the human genome.
  • To facilitate the design of efficient genome-wide association studies (GWAS).

Main Methods:

  • Genotyping over one million single nucleotide polymorphisms (SNPs).
  • Analyzing genetic data from 270 individuals across four distinct geographical populations.
  • Characterizing patterns of genetic variation and linkage disequilibrium.

Main Results:

  • An unprecedented view of human genetic diversity was generated.
  • Detailed patterns of linkage disequilibrium across different populations were identified.
  • A valuable resource of over one million typed SNPs was created.

Conclusions:

  • The HapMap Project significantly advanced the understanding of human genetic variation structure.
  • The project provides a foundational resource for future genetic research and GWAS.
  • Insights into molecular and evolutionary processes shaping human diversity were gained.