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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

Article DOI: 10.3791/57601-v • 05:53 min • June 21st, 2018
June 21st, 2018 •
1,2, 2,3, 2,3,4, 2,3,5
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

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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.

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Keywords: Candidate Gene Testing Clinical Cohort Studies Multiplexed Genotyping Mass Spectrometry Genetic Markers Disease Outcomes Human Papilloma Virus Cost-effective Targeted Diagnostic Method PCR Genomic DNA SAP Primer Pool Extension Master Mix Resin Plate
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