Scientific evidence based rare disease research discovery with research funding data in knowledge graph.

ABSTRACT:

Background

Limited knowledge and unclear underlying biology of many rare diseases pose significant challenges to patients, clinicians, and scientists. To address these challenges, there is an urgent need to inspire and encourage scientists to propose and pursue innovative research studies that aim to uncover the genetic and molecular causes of more rare diseases and ultimately to identify effective therapeutic solutions. A clear understanding of current research efforts, knowledge/research gaps, and funding patterns as scientific evidence is crucial to systematically accelerate the pace of research discovery in rare diseases, which is an overarching goal of this study.

Methods

To semantically represent NIH funding data for rare diseases and advance its use of effectively pro

SUBMITTER: Zhu Q 

PROVIDER: S-EPMC8600882 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature