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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Original Research Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados