DR-063 Extension of Dutch genome reference by detection, anchoring and functional characterization of non-reference segments

Despite the fact that completion of human genome project that was announced over 15 years ago, our knowledge of human genomes is still incomplete. The most challenging pieces missing from our genome “blueprint” are large insertions that are not present in genome of every individual or located in genomic regions that are difficult to assemble. The aim of this project is to identify such segments, finemap them to chromosomes and characterize their molecular function. The completeness of genome reference will greatly simplify, speedup and improve analysis of genomic information from wide range of samples: from healthy subjects to cancer patients.

Victor Guryev UMC Groningen the Netherlands