Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the breadth of phenotypic information recorded in DDD to augment diagnosis and di...

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Detalles Bibliográficos
Autores principales: Aitken, Stuart, Firth, Helen V., McRae, Jeremy, Halachev, Mihail, Kini, Usha, Parker, Michael J., Lees, Melissa M., Lachlan, Katherine, Sarkar, Ajoy, Joss, Shelagh, Splitt, Miranda, McKee, Shane, Németh, Andrea H., Scott, Richard H., Wright, Caroline F., Marsh, Joseph A., Hurles, Matthew E., FitzPatrick, David R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848993/
https://www.ncbi.nlm.nih.gov/pubmed/31607427
http://dx.doi.org/10.1016/j.ajhg.2019.09.015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848993/
https://www.ncbi.nlm.nih.gov/pubmed/31607427
http://dx.doi.org/10.1016/j.ajhg.2019.09.015

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