Original paper
Expanded universal carrier screening and its implementation within a publicly funded healthcare service
Abstract
Carrier screening, a well-established clinical initiative, has been slow to take advantage of the new possibilities offered by high-throughput next generation sequencing technologies. There is evidence of significant benefit in expanding carrier screening to include multiple autosomal recessive conditions and offering a ‘universal’ carrier screen that could be used for a pan-ethnic population. However, the challenges of implementing such a...
Paper Details
Title
Expanded universal carrier screening and its implementation within a publicly funded healthcare service
Published Date
Dec 11, 2019
Volume
11
Issue
1
Pages
21 - 38
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Notes
History