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Decision Support Methods for Finding Phenotype — Disorder Associations in the Bone Dysplasia Domain

A lack of mature domain knowledge and well established guidelines makes the medical diagnosis of skeletal dysplasias (a group of rare genetic disorders) a very complex process. Machine learning techniques can facilitate objective interpretation of medical observations for the purposes of decision su...

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Autori principali: Paul, Razan, Groza, Tudor, Hunter, Jane, Zankl, Andreas
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3511538/
https://ncbi.nlm.nih.gov/pubmed/23226331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0050614
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