CroSeq is a multi-institutional genome program at Brigham and Women’s Hospital in collaboration with University Hospital Centre Zagreb, with funding support provided by Mila Za Sve Foundation. The overarching goal of this program is to develop and disseminate an evidence-based program for the investigation and rational interpretation of the genomic landscape from whole genome sequencing (WGS) results, in pediatric disease.

Using joint genome analysis of the probands and unaffected family members, we are investigating the genomic landscape and informative de novo and inherited genetic variants in pediatric cohorts. We also developing the first aggregated Croatian genome human variation dataset. This rich database will be a scientifically invaluable resource that can be used to create a map of genome variation in Croatian population, reveal a spectrum of genetic variants with potential functional impact, chart disease risk factors, and study the phylogeography of mtDNA and Y-chromosome variations.