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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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JoVE Journal Genetics
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

DOI:
10.3791/57601-v

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05:53 min

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June 21, 2018

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, , ,
1Molecular Genetics of Chronic Inflammation and Allergic Disease,Max-Delbrück Center for Molecular Medicine, 2Murdoch Childrens Research Institute, 3Department of Paediatrics,University of Melbourne, 4Centre for Social and Early Emotional Development, Faculty of Health,Deakin University, 5Department of Paediatrics,University of Western Australia

Chapters

  • 00:04Title
  • 00:30Genotyping
  • 04:11Results: Multiplexed Genotyping Using Mass Spectrometry
  • 05:02Conclusion

Summary

Automatic Translation

Automatic Translation

Identification of genetic variants contributing to complex human disease allows us to identify novel mechanisms. Here, we demonstrate a multiplex genotyping approach to candidate genes or gene pathway analysis that maximizes the coverage at low cost and is amenable to cohort-based studies.

Tags

Candidate Gene TestingClinical Cohort StudiesMultiplexed GenotypingMass SpectrometryGenetic MarkersDisease OutcomesHuman Papilloma VirusCost-effectiveTargetedDiagnostic MethodPCRGenomic DNASAPPrimer PoolExtension Master MixResin Plate

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