Article
Reference exome data for a Northern Brazilian population.
Scientific data - 21 Oct 2020
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
Abstract excerpt
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 catalogue of variants called after sequencing the exomes of 45 babies from Rio Grande do Nord in Brazil. Sequence...
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