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JoVE Journal Genetics
Kandidaat-gen in klinische cohortstudies met Multiplexed genotypering en massaspectrometrie testen
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Kandidaat-gen in klinische cohortstudies met Multiplexed genotypering en massaspectrometrie testen

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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Identificatie van genetische varianten bij te dragen tot complexe ziekten bij de mens laat ons toe om nieuwe mechanismen te identificeren. Hier, aantonen wij een multiplex genotypering aanpak aan kandidaat-genen of gene traject analyse die maximaliseert de dekking tegen lage kosten en is vatbaar voor cohort gebaseerde studies.

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Genetica kwestie 136 genotypering multiplex assay massaspectrometrie MALDI-TOF kandidaat-gen klinische cohort
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