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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Dades bibliogràfiques
Publicat a:Am J Hum Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6848993/
https://ncbi.nlm.nih.gov/pubmed/31607427
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.09.015
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