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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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%...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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

Principles of Pharmacogenetics: Types of Genetic Variants

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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...
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Incomplete Dominance01:43

Incomplete Dominance

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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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Exon Recombination02:32

Exon Recombination

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
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Related Experiment Video

Updated: Apr 1, 2026

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes
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qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes

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Imputation of KIR Types from SNP Variation Data.

Damjan Vukcevic1, James A Traherne2, Sigrid Næss3

  • 1Statistical Genetics, Murdoch Childrens Research Institute, Parkville, VIC 3052, Australia; School of Mathematics and Statistics, University of Melbourne, Parkville, VIC 3010, Australia.

American Journal of Human Genetics
|October 3, 2015
PubMed
Summary
This summary is machine-generated.

Killer cell immunoglobulin-like receptors (KIRs) are crucial for understanding diseases. A new method, KIR*IMP, accurately imputes KIR copy number, enabling large-scale studies of these immune system genes in human health and disease.

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Area of Science:

  • Immunogenetics
  • Computational Biology
  • Human Genetics

Background:

  • Killer cell immunoglobulin-like receptors (KIRs) are immune system genes with significant roles in various diseases, including autoimmune conditions, viral resistance, reproduction, and cancer.
  • The high polymorphism of KIR genes makes direct laboratory typing expensive and time-consuming, limiting their study in large populations.
  • Existing statistical imputation methods for other complex genetic loci, like human leukocyte antigen (HLA), offer a high-throughput, cost-effective alternative.

Purpose of the Study:

  • To develop and validate a novel statistical imputation method, KIR*IMP, for determining KIR copy number.
  • To enable the cost-effective, high-throughput study of KIR genes in large human cohorts.
  • To facilitate detailed investigations into the role of KIRs in human diseases.

Main Methods:

  • Development of the KIR*IMP statistical imputation algorithm.
  • Validation of KIR*IMP accuracy using genetic data.
  • Application of imputation methods to large population datasets.

Main Results:

  • KIR*IMP demonstrates high accuracy in imputing KIR copy number.
  • The method provides an inexpensive and high-throughput alternative to direct KIR typing.
  • The accuracy of KIR*IMP allows for the inclusion of KIR gene analysis in large-scale cohort studies.

Conclusions:

  • KIR*IMP is a highly accurate and efficient method for KIR copy number imputation.
  • This method overcomes previous limitations, enabling large-scale studies of KIRs.
  • KIR*IMP will significantly advance research into the role of KIR genes in human disease.