Whole Genome Sequencing As a First-Tier Diagnostic Test for Infants in Neonatal Intensive Care Units: A Pilot Study in Brazil
Michele P. Migliavacca,Joselito Sobreira, Diana Bermeo, Mireille Gomes, Dayse Alencar, Luciane Sussuchi,Camila Alves Souza,Juliana Santos Silva,Jose Eduardo Kroll,Matheus Burger,Rodrigo Guarischi-Sousa,Darine Villela,Guilherme L. Yamamoto,Fernanda Milanezi,Nelson Horigoshi,Regina Grigolli Cesar,Werther Brunow de Carvalho,Rachel Sayuri Honjo,Debora Romeo Bertola,Chong Ae Kim,Lucian de Souza, Renato S. Procianoy, Rita C. Silveria,Carla Rosenberg,Roberto Giugliani,Gustavo Aguiar Campana,Cristovam Scapulatempo-Neto,Nara Sobreira American Journal of Medical Genetics Part A（2024）
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clinical pediatrics,diagnostic yield,genetic diseases,next-generation sequencing (NGS),trio testing,whole genome sequencing
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