Assessing whole-exome sequencing data from undiagnosed Brazilian patients to improve the diagnostic yield of inborn errors of immunity.

Autor: Ferreira CS; Bioinformatics Laboratory-LABINFO, National Laboratory of Scientific Computation LNCC/MCTIC, Av. Getúlio Vargas, 333, Quitandinha, Petrópolis, Rio de Janeiro, 25651-075, Brazil., da Silva Francisco Junior R; Bioinformatics Laboratory-LABINFO, National Laboratory of Scientific Computation LNCC/MCTIC, Av. Getúlio Vargas, 333, Quitandinha, Petrópolis, Rio de Janeiro, 25651-075, Brazil., Gerber AL; Bioinformatics Laboratory-LABINFO, National Laboratory of Scientific Computation LNCC/MCTIC, Av. Getúlio Vargas, 333, Quitandinha, Petrópolis, Rio de Janeiro, 25651-075, Brazil., Guimarães APC; Bioinformatics Laboratory-LABINFO, National Laboratory of Scientific Computation LNCC/MCTIC, Av. Getúlio Vargas, 333, Quitandinha, Petrópolis, Rio de Janeiro, 25651-075, Brazil., Amendola FA; Allergy and Immunology Service of Institute of Women, Children and Adolescents' Health Fernandes Figueira (IFF) - Oswaldo Cruz Foundation (FIOCRUZ), Rio de Janeiro, RJ, Brazil., Pinto-Mariz F; Allergy and Immunology Service of the Martagão Gesteira Institute for Childcare and Pediatrics (IPPMG), Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro-RJ, Brazil., de Souza MS; Federal Hospital for State Employees (HFSE)-Health Ministry, Rio de Janeiro, RJ, Brazil., Miranda PCB; Lagoon Federal Hospital (HFL)-Health Ministry, Rio de Janeiro, RJ, Brazil., de Vasconcelos ZFM; Laboratory of High Complexity of the Institute of Women, Children and Adolescents' Health Fernandes Figueira (IFF) - Oswaldo Cruz Foundation (FIOCRUZ), Rio de Janeiro, RJ, Brazil., Goudouris ES; Allergy and Immunology Service of the Martagão Gesteira Institute for Childcare and Pediatrics (IPPMG), Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro-RJ, Brazil., Vasconcelos ATR; Bioinformatics Laboratory-LABINFO, National Laboratory of Scientific Computation LNCC/MCTIC, Av. Getúlio Vargas, 333, Quitandinha, Petrópolis, Rio de Janeiro, 25651-075, Brazil. atrv@lncc.br.

Publikováno v: BMC genomic data [BMC Genom Data] 2023 Jun 30; Vol. 24 (1), pp. 36. Date of Electronic Publication: 2023 Jun 30.