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Chances and challenges of machine learning based disease classification in genetic association studies illustrated on age-related macular degeneration

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Günther, Felix ; Brandl, Caroline ; Winkler, Thomas W. ; Wanner, Veronika ; Stark, Klaus ; Kuechenhoff, Helmut ; Heid, Iris M.
License: Creative Commons Attribution 4.0
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Date of publication of this fulltext: 28 Jan 2021 14:19

This publication is part of the DEAL contract with Wiley.


Imaging technology and machine learning algorithms for disease classification set the stage for high-throughput phenotyping and promising new avenues for genome-wide association studies (GWAS). Despite emerging algorithms, there has been no successful application in GWAS so far. We establish machine learning-based phenotyping in genetic association analysis as misclassification problem. To ...


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