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Reference exome data for a Northern Brazilian population

Here we provide a catalogue of variants called after sequencing the exomes of 45 babies from the State of Rio Grande do Nord in Brazil. Our data set provides a useful reference point for diagnosis of rare diseases in Brazil.

Request Access

Applicants requesting access to data from the DAC will be asked to complete a basic application form and to agree to the terms and conditions laid out in the Data Access Agreement (DAA). Details of the application procedure and relevant forms can be obtained by emailing Professor Jenefer Blackwell on jenefer.blackwell@telethonkids.org.au or Professor Selma Jeronimo on smbj@cb.ufrn.br

The Institute of Tropical Medicine of Rio Grande do Norte and Department of Biochemistry, Universidade Federal do Rio Grande do Norte, Natal, Rio de Grande do Norte, Brazil, will consider applications for access to de-identified DNA variant data generated from the study of exomes of 45 Brazilian children based at The Institute. Access to data will be granted to qualified researchers for appropriate health-related uses. A qualified researcher refers to a scientist who is employed, or a student enrolled at, or legitimately affiliated with an academic, non-profit or government institution, or a commercial company performing genetic disease-related diagnostic services.

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00004200160 vcf.gz 26.5 MB
EGAF00004200161 vcf.gz 236.9 MB
2 Files (263.4 MB)