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Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes

Here we present an exome-wide rare genetic variant association study for 30 blood biomarkers in 191,971 individuals in the UK Biobank. We compare gene-based association tests for separate functional variant categories to increase interpretability and identify 193 significant gene-biomarker associati...

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Detalles Bibliográficos
Autores principales: Monti, Remo, Rautenstrauch, Pia, Ghanbari, Mahsa, James, Alva Rani, Kirchler, Matthias, Ohler, Uwe, Konigorski, Stefan, Lippert, Christoph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9464252/
https://www.ncbi.nlm.nih.gov/pubmed/36088354
http://dx.doi.org/10.1038/s41467-022-32864-2