Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.

ABSTRACT:

Background

Approximately 4-8% of the world suffers from a rare disease. Rare diseases are often difficult to diagnose, and many do not have approved therapies. Genetic sequencing has the potential to shorten the current diagnostic process, increase mechanistic understanding, and facilitate research on therapeutic approaches but is limited by the difficulty of novel variant pathogenicity interpretation and the communication of known causative variants. It is unknown how many published rare disease variants are currently accessible in the public domain.

Results

This study investigated the translation of knowledge of variants reported in published manuscripts to publicly accessible variant databases. Variants, symptoms, biochemical assay results, and protein function from liter

SUBMITTER: Lyons EL 

PROVIDER: S-EPMC10433598 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature