A Genome Sequencing Program for Novel Undiagnosed Diseases

PURPOSE: The Scripps Idiopathic Diseases of huMan (IDIOM) study aims to discover novel gene-disease relationships and provide molecular genetic diagnosis and treatment guidance for individuals with novel diseases using genome sequencing integrated with clinical assessment and multidisciplinary case...

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Detalles Bibliográficos
Autores principales: Bloss, Cinnamon S., Scott-Van Zeeland, Ashley A., Topol, Sarah E., Darst, Burcu F., Boeldt, Debra L., Erikson, Galina A., Bethel, Kelly J., Bjork, Robert L., Friedman, Jennifer R., Hwynn, Nelson, Patay, Bradley A., Pockros, Paul J., Scott, Erick R., Simon, Ronald A., Williams, Gary W., Schork, Nicholas J., Topol, Eric J., Torkamani, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575596/
https://www.ncbi.nlm.nih.gov/pubmed/25790160
http://dx.doi.org/10.1038/gim.2015.21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575596/
https://www.ncbi.nlm.nih.gov/pubmed/25790160
http://dx.doi.org/10.1038/gim.2015.21

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