Dear CROSS friends,
Many Mendelian variants are difficult to analyze due to their rarity or lack evidence. Aggregated variant allele count (AC) and frequency (AF) specific for a given population are important parameters for assessing their clinical relevance. Therefore, we generated national Croatian Genome Aggregated Database (CGAD) and Croatian Genome-Phenotype Database (CGPD). That was done for the first time in Croatia (CRO) and within the frame of CROseq-GenomeBank research project. CROseq project was launched in 2021 to systematically introduce and integrate the Whole Genome Joint Analysis into pediatric medicine to: 1) improve personalized health care and diagnostic yield; 2) mitigate underrepresentation of the CRO genomic data in available major worldwide databases.
National genomic databases cataloging CRO‐specific Variome and frequency spectra of the rare and common variants with strong effect size (clinically relevant) or rare and common variants with small effect size or uncertain clinical significance which might substantially contribute to the diversity of overall genomic datasets. The representation of the distinctive CRO genomic datasets might be essential for advanced understanding the genetic basis of human inherited diseases, disease-causative gene discovery (list of homozygous pLoFs), and in particular for variant prioritization strategies, exclusion of low-probability candidates, critical classification and interpretation in Croatia and elsewhere.
Your CROSS T.E.A.M.