Next-generation carrier screening

PURPOSE: Carrier screening for recessive Mendelian disorders traditionally employs focused genotyping to interrogate limited sets of mutations most prevalent in specific ethnic groups. We sought to develop a next-generation DNA sequencing–based workflow to enable analysis of a more comprehensive set...

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Detalles Bibliográficos
Autores principales: Umbarger, Mark A., Kennedy, Caleb J., Saunders, Patrick, Breton, Benjamin, Chennagiri, Niru, Emhoff, John, Greger, Valerie, Hallam, Stephanie, Maganzini, David, Micale, Cynthia, Nizzari, Marcia M., Towne, Charles F., Church, George M., Porreca, Gregory J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3918543/
https://www.ncbi.nlm.nih.gov/pubmed/23765052
http://dx.doi.org/10.1038/gim.2013.83

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3918543/
https://www.ncbi.nlm.nih.gov/pubmed/23765052
http://dx.doi.org/10.1038/gim.2013.83

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