Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants

BACKGROUND: While next generation sequencing (NGS) is a useful tool for the identification of genetic variants to aid diagnosis and support therapy decision, high sequencing costs have limited its application within routine clinical care, especially in economically depressed areas. To investigate th...

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Detalles Bibliográficos
Autores principales: Delio, Maria, Patel, Kunjan, Maslov, Alex, Marion, Robert W., McDonald, Thomas V., Cadoff, Evan M., Golden, Aaron, Greally, John M., Vijg, Jan, Morrow, Bernice, Montagna, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516357/
https://www.ncbi.nlm.nih.gov/pubmed/26214305
http://dx.doi.org/10.1371/journal.pone.0133742

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4516357/
https://www.ncbi.nlm.nih.gov/pubmed/26214305
http://dx.doi.org/10.1371/journal.pone.0133742

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