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Abstract Genome sequencing (GS) has proven effective in reducing morbidity in critically ill infants, however, equitable access to testing remains a challenge in some populations. This study evaluates the use of GS in critically ill infants in Brazil, focusing on diagnostic yield and clinical utility. A national prospective study was conducted through a public-private partnership. GS was performed on infants under one year of age admitted to intensive care units.
1Hospital Israelita Albert Einstein, Avenida Albert Einstein 627, São Paulo 05652-900, Brazil 2Universidade Federal de São Paulo, Departamento de Morfologia e Genética, Rua Botucatu 740, São Paulo 04023-000, Brazil 3Hospital Infantil João Paulo II - FHEMIG, Alameda Ezequiel Dias 345, Belo Horizonte 30130-110, Brazil 4Centro Universitário Faculdade de Medicina do ABC, Avenida Lauro Gomes 2000, Santo André 09060-870, Brazil 5Hospital Prof.
As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.