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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Dettagli Bibliografici
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2014
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Original Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3918543/
https://ncbi.nlm.nih.gov/pubmed/23765052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2013.83
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