Knowledge multiplies when shared — when calling things by their right name: improving the validation and exchange of genetic data in research and diagnostics

Fokkema, I.F.A.C. (2025)

Doctoral Thesis

Genetic disorders and hereditary disease risks pose major challenges for healthcare worldwide. Yet only a small portion of all collected genetic data is shared, and much of the shared information is incomplete or inaccurately described. As a result, valuable knowledge is lost. This thesis focuses on improving the way genetic data is standardized and shared, so that researchers and clinicians can collaborate more effectively and reach faster, more reliable diagnoses.

A key element of this work is the development of the Leiden Open Variation Database (LOVD), a freely available platform for storing and sharing genetic variants in a standardized format. Used globally, LOVD helps bridge the gap between scientific research and clinical diagnostics. The thesis also contributes to improving international standards for describing genetic variants, making data easier to compare and reuse. 

To further enhance data quality, new software tools were developed to automatically detect and correct errors in variant descriptions. Collaborations with scientific publishers were established to enable these checks during the publication process, preventing mistakes from entering the scientific literature.

Together, these developments make it easier to share and interpret genetic information, ultimately supporting more accurate diagnoses, stronger research outcomes, and better patient care worldwide.

• Genetics
• Genetic variants
• Databases
• Variant nomenclature
• Data sharing
• Data standards
• Data validation
• Software development
• Bioinformatics

• All authors: Fokkema, I.F.A.C.
• Supervisor: Dunnen, J.T. den; Aartsma-Rus, A.M.
• Co-supervisor: Ruivenkamp, C.A.L.
• Committee: Hoen, P.A.C. ’t; Santen, G.W.E.; Aten, E.; Ekong, R.
• Qualification: Doctor (dr.)
• Awarding Institution: Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University
• Date: 2025-12-09
• ISBN (print): 9789465227344