Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project.

Background: In European Union countries, any disease affecting less than 5 people in 10,000 is considered rare. As expertise is scarce and rare diseases (RD) are complex, RD patients can remain undiagnosed for many years. The period of searching for a diagnosis, called diagnostic delay, sometimes leads to a diagnostic dead end when the patient's disease is impossible to diagnose after undergoing all available investigations.

ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability.

Background: Estimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tested the use of a specific RD codification system (ORPHAcodes) in five European countries/regions (Czech Republic, Malta, Romania, Spain, Veneto region-Italy) across different data sources over the period January 2019-September 2021.

Results: Overall, 3133 ORPHAcodes were used to describe RD diagnoses, mainly corresponding to the disease/subtype of disease aggregation level of the Orphanet classification (82.

Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.

Purpose: Computational documentation of genetic disorders is highly reliant on structured data for differential diagnosis, pathogenic variant identification, and patient matchmaking. However, most information on rare diseases (RDs) exists in freeform text, such as academic literature. To increase availability of structured RD data, we developed a crowdsourcing approach for collecting phenotype information using student assignments.

Characterization of paralogous transcription factor encoding genes in zebrafish.

The paired-type homeodomain transcription factor Uncx is involved in multiple processes of embryogenesis in vertebrates. Reasoning that zebrafish genes and are orthologs of mouse , we studied their genomic environment and developmental expression. Evolutionary analyses indicate the zebrafish genes as being paralogs deriving from teleost-specific whole-genome duplication.