Precision information extraction for rare disease epidemiology at scale.

ABSTRACT:

Background

The United Nations recently made a call to address the challenges of an estimated 300 million persons worldwide living with a rare disease through the collection, analysis, and dissemination of disaggregated data. Epidemiologic Information (EI) regarding prevalence and incidence data of rare diseases is sparse and current paradigms of identifying, extracting, and curating EI rely upon time-intensive, error-prone manual processes. With these limitations, a clear understanding of the variation in epidemiology and outcomes for rare disease patients is hampered. This challenges the public health of rare diseases patients through a lack of information necessary to prioritize research, policy decisions, therapeutic development, and health system allocations.

Methods

In

SUBMITTER: Kariampuzha WZ 

PROVIDER: S-EPMC9972634 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature