Human genomes vary quite a bit from individual to individual. These differences include single nucleotide change in the DNA sequence, but even more variation comes from structural variants, which include additions, deletions and rearrangements of large segments of DNA. A recent study done by Professor Tobias Marschall and international colleagues used multiple advanced technologies to dive deeper than ever before to comprehensively characterize the structural variants present in three families, and what their functional consequences might be.
Structural variants in human genomes
2019