Article

Genetic services in a resource-constrained African setting – diagnostic odysseys, limited testing strategies and the need for exome sequencing

2022-07-19

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Exome sequencing is recommended as a first-line investigation for the diagnosis of developmental disorders (DD). It is uncertain if this recommendation can be translated to a low-resource setting, due to a dearth of research into current diagnostic practices in such settings.<bold>Results: </bold>A file audit performed on 934 patients presenting to a medical gen...

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Literature Corpus work: 0c3c6b9e-1a02-55df-961c-7a888c952f2f
DOI: 10.21203/rs.3.rs-1738191/v1

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