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Related Concept Videos

Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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...
Hardy-Weinberg Principle01:49

Hardy-Weinberg Principle

Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
What is Population Genetics?01:25

What is Population Genetics?

A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

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Related Experiment Video

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Genotype-based association analysis via entropy.

Yu-Mei Li1, Yang Xiang

  • 1Department of Mathematics, Huaihua University, Huaihua, China. liym74@yahoo.com

Journal of Human Genetics
|August 24, 2012
PubMed
Summary
This summary is machine-generated.

This study introduces a novel genotype-based statistic for gene mapping of human complex traits. This method bypasses the need for haplotype phasing, offering a more feasible approach for genetic association analysis.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Area of Science:

  • Genetics
  • Statistical genetics
  • Bioinformatics

Background:

  • Haplotype-based association studies are crucial for gene mapping of human complex traits.
  • These methods rely on haplotype frequencies, posing computational challenges when haplotypes are unobserved.
  • Existing methods can be infeasible for large-scale genotype data.

Purpose of the Study:

  • To develop a genotype-based statistical method for association analysis.
  • To overcome the limitations of haplotype phasing in genetic association studies.
  • To provide a computationally feasible approach for gene mapping using only genotype data.

Main Methods:

  • Developed a novel genotype-based statistic utilizing entropy theory.
  • The statistic incorporates information from multiple tightly linked markers.
  • Employed simulative studies to investigate the distribution and power of the statistic.

Main Results:

  • The proposed genotype-based statistic does not require haplotype phasing.
  • The statistic demonstrated reasonable performance in simulative studies.
  • The method was successfully applied to analyze hereditary hemochromatosis.

Conclusions:

  • The genotype-based statistic offers a powerful and feasible alternative for genetic association analysis.
  • This approach simplifies gene mapping for human complex traits by using readily available genotype data.
  • The method shows promise for applications in genetic disease research, such as hereditary hemochromatosis.