Article

The Brazilian Rare Genomes Project: validation of whole genome sequencing for rare diseases diagnosis

2021-10-03

Abstract excerpt

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 patient...

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Literature Corpus work: f594fcb5-02a6-525f-be7a-54b48503d58d
DOI: 10.1101/2021.10.01.21264436

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