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Mono- and biallelic variant effects on disease at biobank scale
Identifying causal factors for Mendelian and common diseases is an ongoing challenge in medical genetics(1). Population bottleneck events, such as those that occurred in the history of the Finnish population, enrich some homozygous variants to higher frequencies, which facilitates the identification...
Autores principales: | Heyne, H. O., Karjalainen, J., Karczewski, K. J., Lemmelä, S. M., Zhou, W., Havulinna, A. S., Kurki, M., Rehm, H. L., Palotie, A., Daly, M. J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9849130/ https://www.ncbi.nlm.nih.gov/pubmed/36653560 http://dx.doi.org/10.1038/s41586-022-05420-7 |
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