Rare genetic variants underlie many congenital presentations. A growing body of evidence supports the use of whole genome- or whole exome sequencing for early molecular diagnoses of neonates and children with life-threatening conditions, entering intensive care treatment. Early diagnoses improve outcomes and reduce costs.

In collaboration with BigMed partners including TSD, the Department of Medical Genetics at OUS is developing and testing informatics solutions for automatized, scalable, high-speed processing of whole genome sequence (WGS) data for neonatal intensive care unit (NICU). 

In parallel, solutions for systematized patient phenotyping to benefit rapid identification of pathogenic genomic variation are being developed in collaboration with DIPS.