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About genomes (glossary)

Resequencing and de novo sequencing

Genomes consisting of high-precision reference sequences have been prepared for humans and mice. In the age of next-generation sequencing, by using these genomes, the genome sequence and the sequence of an exon region (exome) of a certain individual can be determined and reference genome sequences mapped using the homogeny of sequences as an index. At present, such a method, called genome resequencing, is already in use. For humans, in the near future, diseases will be diagnosed and treated based on information about conformational polymorphisms (individual genome information) that will be obtained through comparison with the corresponding reference genome sequence.

In the case of wild animals and new pathogens, because no reference sequences exist for these genomes, whole-genome sequencing must be newly performed in each case. This sequencing is called de novo sequencing. In general, next-generation sequencing is performed for DNA fragments with different lengths synthesized from genomic DNA, and genome sequences are reassembled using a program called Assemble. The accuracy of the obtained genomic information greatly depends on the characteristics of the original genome and the experimental method used. Therefore, to obtain accurate genomic information, technical knowledge and experience are required.