Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.

Autor: Mazzonetto PC; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Villela D; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Krepischi ACV; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Pierry PM; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Bonaldi A; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Almeida LGD; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Paula MG; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Bürger MC; Diagnósticos da América S.A., DASA, São Paulo, Brazil., de Oliveira AG; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Fonseca GGG; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Giugliani R; Diagnósticos da América S.A., DASA, São Paulo, Brazil.; Casa dos Raros - House of Rares, Centro de Atenção Integral e Treinamento em Doenças Raras, Porto Alegre, Brazil.; INAGEMP, Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil., Riegel-Giugliani M; Casa dos Raros - House of Rares, Centro de Atenção Integral e Treinamento em Doenças Raras, Porto Alegre, Brazil.; INAGEMP, Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil., Bertola D; Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Yamamoto GL; Diagnósticos da América S.A., DASA, São Paulo, Brazil.; Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Passos-Bueno MR; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Campos GDS; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Machado ACD; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Mazzeu JF; Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil., Perrone E; Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, Brazil., Zechi-Ceide RM; Department of Clinical Genetics and Molecular Biology, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil., Kokitsu-Nakata NM; Department of Clinical Genetics and Molecular Biology, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil., Vieira TP; Department of Translational Medicine - Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas, São Paulo, Brazil., Steiner CE; Department of Translational Medicine - Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas, São Paulo, Brazil., Gil-da-Silva-Lopes VL; Department of Translational Medicine - Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas, São Paulo, Brazil., Vieira DKR; Municipal Secretary of Health of Angra dos Reis, Rio de Janeiro, Brazil.; National Institute of Women, Children and Adolescents Health Fernandes Figueira/Oswaldo Cruz Foundation (IFF/FIOCRUZ), Rio de Janeiro, Brazil., Boy R; State University of Rio de Janeiro, Rio de Janeiro, Brazil., de Pina-Neto JM; Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, São Paulo, Brazil., Scapulatempo-Neto C; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Milanezi F; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Rosenberg C; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.; Diagnósticos da América S.A., DASA, São Paulo, Brazil.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63802. Date of Electronic Publication: 2024 Jun 25.