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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.
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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.
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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Gene flow is the transfer of genes among populations, resulting from either the dispersal of gametes or from the migration of individuals.
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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,...

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Related Experiment Video

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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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A genomewide admixture map for Latino populations.

Alkes L Price1, Nick Patterson, Fuli Yu

  • 1Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

American Journal of Human Genetics
|May 16, 2007
PubMed
Summary

Researchers developed a new admixture map to pinpoint disease genes in Latino populations. This tool uses validated ancestry-informative markers, improving genetic disease association studies for diverse ancestries.

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Published on: July 27, 2021

Area of Science:

  • Genetics
  • Population Genetics
  • Medical Genetics

Background:

  • Admixture mapping effectively identifies disease genes in populations with mixed ancestry, such as African Americans.
  • Latinos possess a complex genetic admixture of European, Native American, and African ancestries, making them suitable for admixture mapping.
  • Previous limitations in admixture mapping for Latino populations stemmed from the absence of validated ancestry-informative markers (AIMs).

Purpose of the Study:

  • To develop a practical and validated admixture map for Latino populations.
  • To facilitate the localization of disease genes within diverse Latino communities.
  • To overcome the challenges posed by the complex Native American, European, and African ancestral components in Latinos.

Main Methods:

  • Screened millions of markers across databases to identify potential AIMs for Latino ancestry.
  • Experimentally validated 4,186 putative AIMs in over 232 Latino, European, Native American, and African samples.
  • Selected 1,649 validated AIMs to construct an admixture map, prioritizing markers distinguishing Native American ancestry and those with similar frequencies in European and African populations.

Main Results:

  • Successfully created a validated admixture map comprising 1,649 AIMs tailored for Latino populations.
  • The map effectively distinguishes Native American ancestry from other ancestral components.
  • The selected markers minimize potential false disease associations by having similar frequencies in European and African populations.

Conclusions:

  • The developed admixture map is a valuable tool for efficiently localizing disease genes in Latino populations.
  • This resource enhances the power of genetic association studies in diverse populations with complex ancestry.
  • The strategy of focusing on specific ancestral distinctions and marker frequency similarities improves the accuracy and utility of admixture mapping.