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[Diagnostics in human genetics : Integration of phenotypic and genomic data].

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz - 1 May 2017

Köhler Sebastian, Robinson Peter N

Abstract excerpt

The development of reliable methods for annotation of clinical phenotypes and algorithms to calculate similarity values for clinical phenotype profiles will be a major challenge for genomic personalized medicine, since combined analysis of phenotypic features and genetic variants can increase diagnostic yield, especially with exome or genome sequencing. The Human Phenotype Ontology project (HPO;...

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PMID: 28293716
DOI: 10.1007/s00103-017-2538-5

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