Brazilian Exomes Data Access Committee

Jenefer M. Blackwell
jenefer.blackwell@telethonkids.org.au

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Dataset ID	Description	Technology	Samples
EGAD00001006407	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.		45
EGAD00001006681	DNAs were genotyped on Illumina Infinium HumanCoreExome Beadchips (Illumina Inc., San Diego, CA, USA) with probes for 551,004 single nucleotide variants (SNVs): 282,373 informative across ancestries; 268,631 exome-focused. Human genome build 37 (hg19) was used.		1