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Related Concept Videos

Exon Recombination02:32

Exon Recombination

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 has three reading...
Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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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...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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.
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Related Experiment Video

Updated: May 25, 2026

Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma
08:53

Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma

Published on: June 10, 2017

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.

Thomas C Markello1, Ted Han, Hannah Carlson-Donohoe

  • 1National Human Genome Research Institute, NIH, Bethesda, MD 20892-1611, USA. markellot@mail.nih.gov

Molecular Genetics and Metabolism
|January 24, 2012
PubMed
Summary
This summary is machine-generated.

Single nucleotide polymorphism (SNP) array data from small pedigrees can identify chromosomal regions for exome sequencing projects. This cost-effective method aids in rapid disease-gene identification by analyzing recombination patterns.

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Last Updated: May 25, 2026

Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma
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Published on: June 10, 2017

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Area of Science:

  • Genetics and Genomics
  • Bioinformatics
  • Medical Genetics

Background:

  • Whole genome sequencing in small pedigrees effectively resolves haplotypes and maps recombinations for variant filtering.
  • Existing methods for disease gene identification can be computationally intensive.

Purpose of the Study:

  • To demonstrate the utility of single nucleotide polymorphism (SNP) array data from small pedigrees for identifying regions of interest in exome sequencing projects.
  • To present a cost-effective and computationally efficient alternative to traditional linkage analysis for disease gene mapping.

Main Methods:

  • Utilized SNP array data from small pedigrees to perform recombination mapping.
  • Applied Boolean logic for SNP recombination mapping, assuming complete penetrance and availability of parental DNA.
  • Compared results with multipoint linkage analysis using microsatellites.

Main Results:

  • SNP recombination mapping successfully identified chromosomal regions comparable to those found by multipoint linkage analysis.
  • The SNP-based approach required significantly less computation.
  • The low probability of double crossovers between informative SNP loci validated the method's efficacy.

Conclusions:

  • SNP array data combined with recombination mapping offers a rapid and cost-effective strategy for exome sequencing projects.
  • This approach effectively incorporates chromosome segregation information for disease-gene identification.
  • The method provides a valuable tool for genetic research in small families.