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Reference exome data for a Northern Brazilian population

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition. Here we provide a...

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Detalles Bibliográficos
Autores principales: Weeks, Alexia L., Francis, Richard W., Neri, Joao I. C. F., Costa, Nathaly M. C., Arrais, Nivea M. R., Lassmann, Timo, Blackwell, Jenefer M., Jeronimo, Selma M. B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578642/
https://www.ncbi.nlm.nih.gov/pubmed/33087711
http://dx.doi.org/10.1038/s41597-020-00703-y