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Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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.
Genetic Lingo01:11

Genetic Lingo

Overview
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...
Inheritance01:25

Inheritance

Gregor Mendel's pioneering work on the principles of inheritance fundamentally transformed our understanding of how traits are transmitted from generation to generation. His experiments with pea plants laid the groundwork for the discovery of genes, discrete units within organisms that control heredity.
Each gene exists in pairs, and the combination of these genes from both parents forms an individual's genotype. This genotype is a blueprint of potential traits. Examples of genotype traits...

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Related Experiment Video

Updated: Jun 20, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Genotype imputation.

Yun Li1, Cristen Willer, Serena Sanna

  • 1Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109-2029, USA. ylwtx@umich.edu

Annual Review of Genomics and Human Genetics
|September 1, 2009
PubMed
Summary

Genotype imputation enhances genome-wide association studies by enabling analysis of non-genotyped markers. This powerful technique improves study power and combines results from diverse genotyping platforms.

Area of Science:

  • Genetics
  • Bioinformatics

Background:

  • Genome-wide association scans (GWAS) are crucial for identifying genetic variants associated with diseases.
  • Different genotyping platforms across studies pose challenges for meta-analysis.
  • Direct genotyping misses valuable genetic information at untyped markers.

Purpose of the Study:

  • To review the history and theoretical foundations of genotype imputation.
  • To demonstrate the utility and performance of genotype imputation in gene mapping studies.
  • To discuss the future role of genotype imputation with whole genome resequencing.

Main Methods:

  • Review of existing literature on genotype imputation techniques.
  • Analysis of results from multiple gene mapping studies utilizing imputation.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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13:33

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

  • Theoretical explanation of imputation algorithms and their statistical underpinnings.

    • Main Results:

    • Genotype imputation accurately infers genotypes at untyped markers.
    • Imputation significantly increases the power of genome-wide association scans.
    • Combining studies via imputation is effective even with different genotyping platforms.

    Conclusions:

    • Genotype imputation is an indispensable tool for modern genetic association studies.
    • The technique enhances the ability to detect disease-associated variants.
    • Imputation will remain vital as whole genome sequencing becomes more prevalent.