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Updated: Nov 6, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Clinical translation of genomic medicine]
Danuta Gawel1, Eva Bojner Horwitz2, Oleg Sysoev3
1PhD, bioinformatikansvarig, institutionen för biomedicinska och kliniska vetenskaper, Linköpings universitet.
Abstract:
Recent technical developments and early clinical examples support that precision medicine has potential to provide novel diagnostic and therapeutic solutions for patients with complex diseases, who are not responding to existing therapies. Those solutions will require integration of genomic data with routine clinical, imaging, sensor, biobank and registry data. Moreover, user-friendly tools for informed decision support for both patients and clinicians will be needed. While this will entail huge technical, ethical, societal and regulatory challenges, it may contribute to transforming and improving health care towards becoming predictive, preventive, personalised and participatory (4P-medicine).
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