Articles with "phenotypic similarity" as a keyword



Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping

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Published in 2019 at "Journal of biomedical informatics"

DOI: 10.1016/j.jbi.2019.103308

Abstract: Rare diseases are often hard and long to be diagnosed precisely, and most of them lack approved treatment. For some complex rare diseases, precision medicine approach is further required to stratify patients into homogeneous subgroups… read more here.

Keywords: research; similarity; rare disease; disease ... See more keywords