Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach

PURPOSE: To present results from a large cohort of individuals receiving expanded carrier screening (CS) in the United States. METHODS: Single-gene disorder carrier status for 381,014 individuals was determined using next-generation sequencing (NGS) based CS for up to 274 genes. Detection rates were...

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Detalles Bibliográficos
Autores principales: Westemeyer, Maggie, Saucier, Jennifer, Wallace, Jody, Prins, Sarah A., Shetty, Aparna, Malhotra, Meenakshi, Demko, Zachary P., Eng, Christine M., Weckstein, Louis, Boostanfar, Robert, Rabinowitz, Matthew, Benn, Peter, Keen-Kim, Dianne, Billings, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394882/
https://www.ncbi.nlm.nih.gov/pubmed/32366966
http://dx.doi.org/10.1038/s41436-020-0807-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394882/
https://www.ncbi.nlm.nih.gov/pubmed/32366966
http://dx.doi.org/10.1038/s41436-020-0807-4

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