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Translating exome sequencing from research to clinical diagnostics
Emily M Coonrod1, Rebecca L Margraf, Karl V Voelkerding
1ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA.
Clinical Chemistry and Laboratory Medicine
|August 2, 2012
Summary
Next-generation sequencing (NGS) is revolutionizing genomic research and clinical diagnostics. This review covers exome sequencing
Area of Science:
- Genomics
- Clinical Diagnostics
- Bioinformatics
Background:
- Next-generation sequencing (NGS) has become a preferred method for complex genomic research.
- Its application is expanding into clinical diagnostic laboratories for patient care.
- Multi-gene panels and exome sequencing are increasingly used in research for identifying disease-related genes and variants.
Purpose of the Study:
- To review the technical and bioinformatics aspects of exome sequencing.
- To present examples of exome sequencing in candidate gene discovery.
- To discuss considerations for translating exome sequencing into clinical practice.
Main Methods:
- Review of current literature on exome sequencing.
- Analysis of technical and bioinformatics challenges.
- Case study examples of exome sequencing applications.
Main Results:
- Exome sequencing is increasingly applied in research for rare and complex genetic disorders.
- The translation of exome sequencing into clinical diagnostics presents significant technical and bioinformatics challenges.
- Successful examples of exome sequencing aiding candidate gene discovery exist.
Conclusions:
- Exome sequencing holds great promise for clinical diagnostics.
- Addressing technical and bioinformatics challenges is crucial for its successful implementation.
- Further research and development are needed for widespread clinical adoption.
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