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Updated: Aug 13, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre

Natana Chaves Rabelo1,2,3, Maria Eduarda Gomes1,2,3, Isabelle Correa de Moraes1,2,3

  • 1Laboratório de Biologia Molecular/Medicina Genômica, Centro de Genética Médica José Carlos Cabral de Almeida & Centro de Referência para Doenças Raras - Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF) - FIOCRUZ, Rio de Janeiro, Brazil.

Frontiers in Genetics
|August 12, 2026
PubMed
Abstract

Keywords:
NGSexomegenomicshealth-equitypublic healthrare diseases

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