Citation:
Weeks AL, Francis RW, Neri JICF, Costa NMC, Arrais NMR, Lassmann T, Blackwell JM, et al. Reference exome data for a Northern Brazilian population. Sci Data. 2020;7(1).
Keywords:
Genetic diseases, Brazil, exome sequencing
Abstract:
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.
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.