Article

Deep learning based phenotyping of medical images improves power for gene discovery of complex disease

2023-03-09

Abstract excerpt

Electronic health records (EHRs) are often incomplete and inaccurate, reducing the power of genome-wide association studies (GWAS). Moreover, the variables within these records are often represented in binary codes, masking variation in disease severity among individuals. For some diseases, such as knee osteoarthritis (OA), radiographic assessment is the primary means of diagnosis and can be performed directly fro...

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Literature Corpus work: c496d3a3-32ee-5684-9d47-dca342a74688
DOI: 10.1101/2023.03.07.23286909

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