Sequencing as a first-line methodology for cystic fibrosis carrier screening

PURPOSE: Medical society guidelines recommend offering genotyping-based cystic fibrosis (CF) carrier screening to pregnant women or women considering pregnancy. We assessed the performance of sequencing-based CF screening relative to genotyping, in terms of analytical validity, clinical validity, cl...

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Detalles Bibliográficos
Autores principales: Beauchamp, Kyle A., Johansen Taber, Katherine A., Grauman, Peter V., Spurka, Lindsay, Lim-Harashima, Jeraldine, Svenson, Ashley, Goldberg, James D., Muzzey, Dale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831513/
https://www.ncbi.nlm.nih.gov/pubmed/31036917
http://dx.doi.org/10.1038/s41436-019-0525-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831513/
https://www.ncbi.nlm.nih.gov/pubmed/31036917
http://dx.doi.org/10.1038/s41436-019-0525-y

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