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Inclusion bias affects common variant discovery and replication in a health-system linked biobank

2025-04-06 genetic and genomic medicine Title + abstract only
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Electronic Health Records (EHR)-linked biobanks have emerged as promising tools for precision medicine, enabling the integration of clinical and molecular data for individual risk assessment. Association studies performed in biobank studies can connect common genetic variation to clinical phenotypes, such as through the use of polygenic scores (PGS), which are starting to have utility in aiding clinician decision making. However, while biobanks aggregate large amounts of data effectively for suc...

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