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From Genome to Diagnosis: Clinical Application and Translation of Whole Genome Sequencing in Rare Disease Diagnostics
The Center for Medical Genetics (CMG) at the Faculty of Medicine and Health Sciences of the University of Antwerp is seeking a full-time (100%) doctoral scholarship holder to contribute to a whole genome sequencing project focused on rare disease diagnostics.
Over the past decade, next-generation sequencing has evolved from targeted gene panels to exome sequencing and now whole genome sequencing (WGS). With increasing speed, accuracy, and affordability, both short-read and long-read WGS are moving toward routine clinical diagnostics.
These technologies enable identification of genetic causes of rare diseases, including in patients who previously remained undiagnosed. However, long-read WGS introduces new challenges in bioinformatics, data analysis, and clinical interpretation.
As part of this PhD project, you will contribute to the clinical application and translation of whole genome sequencing in rare disease diagnostics.
You will work with short-read and long-read WGS data and develop innovative analytical approaches. Research topics include:
The goal is to contribute to faster and more accurate diagnosis of rare diseases.
The project is based at the Antwerp Center for Medical Genetics (CMG), embedded within the University of Antwerp and Antwerp University Hospital.
CMG has strong expertise and infrastructure in:
Key supervision team:
The project has a strong focus on bioinformatics analysis of genome datasets.
You will:
You should have:
Required:
Apply via the University of Antwerp online job platform by 18 June 2026.
Required documents:
For application issues:
???? jobs@uantwerpen.be
For project-related questions:
The University of Antwerp holds the HR Excellence in Research Award from the European Commission.
The university emphasizes:
In your application, please refer to Professorpositions.com