Article

Leveraging nationwide health care records in Estonia to identify the genetic background of understudied disease phenotypes

2025-03-19

Abstract excerpt

Nationwide health records linked to population biobanks can expand genetic discovery into clinical phenotypes that are poorly captured in hospital-centred datasets. We performed genome-wide association analyses of 5,491 ICD-10-based disease phenotypes in 206,159 Estonian Biobank participants using imputed genotype data across 18.8 million single-nucleotide and insertion-deletion variants. Across the disease phenom...

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Literature Corpus work: 52db06a3-a1b6-50cd-b60a-065ea772304e
DOI: 10.1101/2025.03.18.25324091

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