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...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
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

Internet

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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