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

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

Genetic disorders are significant contributors to infant hospitalization and mortality globally. The early diagnosis of these conditions in infants remains a considerable challenge. Clinical exome sequencing (CES) has shown to be a successful tool for the early diagnosis of genetic conditions, howev...

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Bibliographic Details
Main Authors: L. Campbell, J. Fredericks, K. Mathivha, P. Moshesh, A. Coovadia, P. Chirwa, B. Dillon, A. Ghoor, D. Lawrence, L. Nair, N. Mabaso, D. Mokwele, M. Novellie, A. Krause, N. Carstens
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Genetics
Subjects:
clinical-exome
infant
diagnostic
South Africa
LMIC
implementation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1277948/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1277948/full

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