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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2019
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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 |