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Related Concept Videos

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. 
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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Updated: Oct 27, 2025

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Clinical Exome Reanalysis: Current Practice and Beyond.

Jianling Ji1,2, Marco L Leung3,4, Samuel Baker5

  • 1Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.

Molecular Diagnosis & Therapy
|July 20, 2021
PubMed
Summary
This summary is machine-generated.

Reanalyzing exome sequencing data offers new molecular diagnoses through technological advances and collaborations. Integrating electronic health records and knowledge databases can enhance exome reanalysis utility.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Clinical Diagnostics

Background:

  • Exome sequencing data reanalysis is increasingly vital for novel molecular diagnoses.
  • Advancements in technology, bioinformatics, and gene-disease databases drive new discoveries.

Purpose of the Study:

  • To review the advantages and challenges of clinician- and laboratory-initiated exome reanalysis.
  • To propose a future model for maximizing the clinical utility of exome reanalysis.

Main Methods:

  • Review of current literature and practices in exome data reanalysis.
  • Proposal of an integrated model incorporating electronic medical records and knowledge databases.

Main Results:

  • Exome reanalysis holds significant potential for identifying additional molecular diagnoses.
  • Systematic reanalysis requires automation, updated phenotype information, and robust databases.

Conclusions:

  • Collaboration and technological integration are key to advancing exome reanalysis.
  • A proposed model aims to enhance clinical utility by embedding reanalysis into routine workflows.