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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2014
Témata:
Original Research Article
On-line přístup: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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