Postnatal Research

Overview

Our postnatal research program focuses on advancing the diagnosis and understanding of rare genetic disorders through the integration of cutting-edge genomic technologies. We specialize in cases involving intellectual disability and congenital anomalies.

Key Technologies

Whole Genome Sequencing

Using Illumina short-read technology for comprehensive genetic analysis
Long-Read Sequencing

Employing PacBio Revio and Oxford Nanopore Technologies for:
- Structural variant detection
- Triplet repeat expansions
- Dark regions of the genome
- Epigenomic analysis
Optical Genome Mapping

Using Bionano technology for high-resolution structural variant analysis
Mitochondrial disorders

Using latest sequencing technologies, the mitochondrial DNA is investigated for rare mutations
Functional Elucidation

In collabration with FunGen group of Prof. dr. ir. Sarah Vergult