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The implementation and utility of clinical exome sequencing in a South African infant cohort.

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第一作者： L,Campbell

第一单位： Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

作者： L,Campbell ^[1] ; J,Fredericks ^[2] ; K,Mathivha ^[3] ; P,Moshesh ^[3] ; A,Coovadia ^[2] ; P,Chirwa ^[4] ; B,Dillon ^[1] ; A,Ghoor ^[2] ; D,Lawrence ^[2] ; L,Nair ^[2] ; N,Mabaso ^[1] ; D,Mokwele ^[1] ; M,Novellie ^[1] ; A,Krause ^[1] ; N,Carstens ^[5]

作者单位： Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. ^[1] Department of Paediatrics and Child Health, School of Clinical Medicine, Rahima Moosa Mother and Child Hospital, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. ^[2] Department of Paediatrics and Child Health, School of Clinical Medicine, Nelson Mandela Children's Hospital, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa. ^[3] Nelson Mandela Children's Hospital, Johannesburg, South Africa. ^[4] Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.;Genomics Platform, South African Medical Research Council, Cape Town, South Africa. ^[5]

关键词 LMIC South Africa clinical-exome diagnostic implementation infant

DOI 10.3389/fgene.2023.1277948

PMID 38028619

发布时间 2023-12-01

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