Rare disorders have many faces: in silico characterization of rare disorder spectrum.

ABSTRACT:

Background

The diagnostic journey for many rare disease patients remains challenging despite use of latest genetic technological advancements. We hypothesize that some patients remain undiagnosed due to more complex diagnostic scenarios that are currently not considered in genome analysis pipelines. To better understand this, we characterized the rare disorder (RD) spectrum using various bioinformatics resources (e.g., Orphanet/Orphadata, Human Phenotype Ontology, Reactome pathways) combined with custom-made R scripts.

Results

Our in silico characterization led to identification of 145 borderline-common, 412 rare and 2967 ultra-rare disorders. Based on these findings and point prevalence, we would expect that approximately 6.53%, 0.34%, and 0.30% of individuals in a randomly

SUBMITTER: Frederiksen SD 

PROVIDER: S-EPMC8864832 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature