Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders.

ABSTRACT: There are >2500 different genetically determined developmental disorders (DD), which, as a group, show very high levels of both locus and allelic heterogeneity. This has led to the wide-spread use of evidence-based filtering of genome-wide sequence data as a diagnostic tool in DD. Determining whether the association of a filtered variant at a specific locus is a plausible explanation of the phenotype in the proband is crucial and commonly requires extensive manual literature review by both clinical scientists and clinicians. Access to a database of weighted clinical features extracted from rigorously curated literature would increase the efficiency of this process and facilitate the development of robust phenotypic similarity metrics. However, given the large and rapidly increasing volume

SUBMITTER: Yates TM 

PROVIDER: S-EPMC9216525 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature