Clinical Pertinence Metric Enables Hypothesis-Independent Genome-Phenome Analysis for Neurologic Diagnosis

We describe an “integrated genome-phenome analysis” that combines both genomic sequence data and clinical information for genomic diagnosis. It is novel in that it uses robust diagnostic decision support and combines the clinical differential diagnosis and the genomic variants using a “pertinence” m...

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Detalles Bibliográficos
Autores principales: Segal, Michael M., Abdellateef, Mostafa, El-Hattab, Ayman W., Hilbush, Brian S., De La Vega, Francisco M., Tromp, Gerard, Williams, Marc S., Betensky, Rebecca A., Gleeson, Joseph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339658/
https://www.ncbi.nlm.nih.gov/pubmed/25156663
http://dx.doi.org/10.1177/0883073814545884

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339658/
https://www.ncbi.nlm.nih.gov/pubmed/25156663
http://dx.doi.org/10.1177/0883073814545884

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