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Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania

Genetically isolated populations, such as the Old Order Amish and Old Order Mennonite communities, have an increased incidence of specific autosomal recessive disorders caused by the founder effect. In these populations, robust expanded carrier screening and diagnostic testing have the potential to...

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Detalles Bibliográficos
Publicado en:J Mol Diagn
Main Authors: Crowgey, Erin L., Washburn, Michael C., Kolb, E. Anders, Puffenberger, Erik G.
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Investigative Pathology 2019
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7338886/
https://ncbi.nlm.nih.gov/pubmed/31028937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2019.03.004
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