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New insights into large genomes white paper

White paper

Date: 22nd December 2021

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. This review outlines how researchers are now utilising the advantages of long nanopore sequencing reads to address this challenge, delivering more accurate large genomes for a wide variety of applications.

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