As we have been told many times since the publication of the human genome, the age of personal genomics is upon us. However, the vast difference between one human genome and the next, in the form of single nucleotide polymorphisms (SNPs) or other structural variations, is only just becoming apparent with the sequencing of more personal genomes.
This map presents more detail on structural variations, such as copy number variations (CNVs), insertions and deletions (indels), inversions and SNPs than ever before. The authors detected over 12,000 structural variants, impacting nearly 5,000 genes, that were not detected in the first published genome sequence of a personal human genome, that of J. Craig Venter. The authors highlight that up to 2% of our genome may differ from that of our neighbours and that SNPs alone only account for 0.1% of this variation.
This resource will provide an essential template for analysis of structural variation in future personal genomes.
Read about this exciting advance here.