New insights into large genomes white paper

Overview

Since Haemophilus influenzae became the first organism to have its entire genome sequenced in 1995, there are now thousands of completed genomes covering archaea, bacteria and eukarya. However, the term ‘completed genome’ (or sometimes ‘finished genome’) is overused, as the majority of sequenced genomes contain numerous gaps. These gaps correspond to repetitive regions and structural variants that are too large to be resolved by the short-read sequencing technologies often used to generate the genomes.