Unmapped structural variants in the human genome

While genome resources for Homo sapiens have allowed for major advances in a variety of fields of research, the current genome build (GRCh38) remains incomplete. In this study, we isolated unmappable reads from 45 individuals previously sequenced as part of the '1000 Genomes Project'. We were able to assemble these reads, map many contigs to their respective genomic loci, and identify orthologies to genetic content previously unknown in the human genome.