Towards a comprehensive structural variation map of an individual human genome

A comprehensive map of structural variation in the human genome provides a reference dataset for analyses of future personal genomes.
Background Several genomes have now been sequenced, with millions of genetic variants annotated. While significant progress has been made in mapping single nucleotide polymorphisms (SNPs) and small (24% of structural variants would not be imputed by SNP-association. Conclusions Our results indicate that a large number of structural variants have been unreported in the individual genomes published to date. This significant extent and complexity of structural variants, as well as the growing recognition of their medical relevance, necessitate they be actively studied in health-related analyses of personal genomes. The new catalogue of structural variants generated for this genome provides a crucial resource for future comparison studies.