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Updated: Jun 1, 2026
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Exome sequencing in Parkinson's disease
1Department of Molecular Neuroscience, Institute of Neurology, University College of London, London, UK. j.bras@ion.ucl.ac.uk
Clinical Genetics
|June 10, 2011
Summary
Exome sequencing is a key tool for discovering gene mutations in rare mendelian diseases. This review explores its application in complex conditions like Parkinson
Area of Science:
- Genetics
- Functional Genomics
Background:
- Exome sequencing is an increasingly vital methodology in genetics and functional genomics.
- It facilitates the identification of previously elusive pathogenic mutations in mendelian diseases.
Purpose of the Study:
- To review the application of exome sequencing for complex diseases, using Parkinson's disease as a model.
- To discuss the known limitations and challenges associated with exome sequencing.
Main Methods:
- Literature review of exome sequencing applications.
- Analysis of exome sequencing utility in complex genetic disorders.
Main Results:
- Exome sequencing has proven effective in identifying causative mutations for mendelian disorders.
- The review outlines potential strategies for applying this technique to complex diseases.
Conclusions:
- Exome sequencing holds significant promise for unraveling the genetic basis of complex diseases.
- Understanding the caveats is crucial for successful implementation of exome sequencing.
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