Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank.

ABSTRACT:

Background

Rare diseases collectively affect up to 10% of the population, but often lack effective treatment, and typically little is known about their pathophysiology. Major challenges include suboptimal phenotype mapping and limited statistical power. Population biobanks, such as the UK Biobank, recruit many individuals who can be affected by rare diseases; however, investigation into their utility for rare disease research remains limited. We hypothesized the UK Biobank can be used as a unique population assay for rare diseases in the general population.

Methods

We constructed a consensus mapping between ICD-10 codes and ORPHA codes for rare diseases, then identified individuals with each rare condition in the UK Biobank, and investigated their age at recruitment, sex bia

SUBMITTER: Patrick MT 

PROVIDER: S-EPMC9364550 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature