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The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design

Allele frequency data from human reference populations is of increasing value for the filtering, interpretation, and assignment of pathogenicity to genetic variants. Aged and healthy populations are more likely to be selectively depleted of pathogenic alleles and therefore particularly suitable as a...

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Detalles Bibliográficos
Autores principales: Lacaze, Paul, Pinese, Mark, Kaplan, Warren, Stone, Andrew, Brion, Marie-Jo, Woods, Robyn L., McNamara, Martin, McNeil, John J., Dinger, Marcel E., Thomas, David M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336775/
https://www.ncbi.nlm.nih.gov/pubmed/30353151
http://dx.doi.org/10.1038/s41431-018-0279-z