Related Experiment Video
Updated: May 10, 2026

13:33
Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
Genotype imputation to increase sample size in pedigreed populations.
John M Hickey1, Matthew A Cleveland, Christian Maltecca
1School of Environmental and Rural Science, University of New England, Armidale, NSW, Australia.
Methods in Molecular Biology (Clifton, N.J.)
|June 13, 2013
Summary
Genotype imputation using AlphaImpute software improves genomic selection power in pedigreed populations. This heuristic algorithm combines phasing, library imputation, and segregation analysis for enhanced accuracy.
Area of Science:
- Genetics and Genomics
- Bioinformatics
- Animal Breeding
Background:
- Genomic selection and genome-wide association studies require high-density genotype data.
- Genotype imputation offers a cost-effective solution to increase marker density.
- Pedigreed populations present unique challenges for accurate genotype imputation.
Purpose of the Study:
- To describe a heuristic genotype imputation algorithm implemented in AlphaImpute software.
- To detail the challenges and specifics of imputing genotypes in pedigreed populations.
- To discuss factors influencing imputation accuracy and provide practical application examples.
Main Methods:
- Focus on a heuristic algorithm combining long-range phasing, haplotype library imputation, and segregation analysis.
- Utilizes pedigree information for improved imputation accuracy in related individuals.
- Software AlphaImpute is used for practical implementation and demonstration.
Main Results:
- The AlphaImpute algorithm is specifically designed for pedigreed populations.
- Factors affecting genotype imputation accuracy are discussed in detail.
- Parameters controlling the AlphaImpute algorithm are explained with application examples.
Conclusions:
- Genotype imputation is crucial for enhancing genomic studies in livestock and other pedigreed populations.
- The AlphaImpute algorithm provides a powerful tool for accurate genotype imputation.
- Understanding imputation parameters is key to maximizing accuracy and study power.
Related Concept Videos
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.
Pedigree Analysis
Overview
Pedigree Analysis
Overview
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.
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...
GWAS does not require the identification of the target gene involved in...
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.
