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Expanded universal carrier screening and its implementation within a publicly funded healthcare service

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 cond...

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Detalles Bibliográficos
Autores principales: Rowe, Charlotte A., Wright, Caroline F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962405/
https://www.ncbi.nlm.nih.gov/pubmed/31828606
http://dx.doi.org/10.1007/s12687-019-00443-6