2021
DOI: 10.1101/2021.10.01.21264436
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The Brazilian Rare Genomes Project: validation of whole genome sequencing for rare diseases diagnosis

Abstract: Rare diseases affect 3.2 to 13.2 million individuals in Brazil. The Brazilian Rare Genomes Project is envisioned to further the implementation of genomic medicine into the Brazilian public healthcare system. Here we report the results of the validation of a whole genome sequencing (WGS) procedure for implementation in a clinical laboratory. In addition, we report data quality for the first 1,200 real world patients sequenced. For the validation, we sequenced a well characterized group of 76 samples, including … Show more

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“…Sequencing was performed on an Illumina NovaSeq® 6000 platform. Complete details regarding genome sequencing steps and validation are in the preprint ( Campos Coelho et al, 2021 ).…”
Section: Methodsmentioning
confidence: 99%
See 1 more Smart Citation
“…Sequencing was performed on an Illumina NovaSeq® 6000 platform. Complete details regarding genome sequencing steps and validation are in the preprint ( Campos Coelho et al, 2021 ).…”
Section: Methodsmentioning
confidence: 99%
“…Sequencing was performed on an Illumina NovaSeq ® 6000 platform. Complete details regarding genome sequencing steps and validation are in the preprint (Campos Coelho et al, 2021). Genome data from every patient were aligned to the GRCh38/hg38 reference genome, and variants (SNVs, indels, and CNVs) were called using the DRAGEN Germline pipeline (Illumina, version 3.6.3 or superior); variants were annotated using in-house protocols and analyzed on the Varstation ® Platform (version 2.0,São Paulo,Brazil,www.varstation.com).…”
Section: Molecular Analysis and Bioinformaticsmentioning
confidence: 99%