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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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
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Article
Acesso em linha: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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