Linking common human diseases to their phenotypes; development of a resource for human phenomics.

ABSTRACT:

Background

In recent years a large volume of clinical genomics data has become available due to rapid advances in sequencing technologies. Efficient exploitation of this genomics data requires linkage to patient phenotype profiles. Current resources providing disease-phenotype associations are not comprehensive, and they often do not have broad coverage of the disease terminologies, particularly ICD-10, which is still the primary terminology used in clinical settings.

Methods

We developed two approaches to gather disease-phenotype associations. First, we used a text mining method that utilizes semantic relations in phenotype ontologies, and applies statistical methods to extract associations between diseases in ICD-10 and phenotype ontology classes from the literature. Secon

SUBMITTER: Kafkas S 

PROVIDER: S-EPMC8383460 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature