The genome sequence of an individual from Korea is reported in Nature this week. This is the most contiguous human genome mapped to date, providing a population-specific reference genome and vital data for genetic scientists generally.
Although the human genome has been decoded before, the sequence is far from complete and varies across populations. Some parts of the genome are harder to read than others, meaning there are gaps in the sequences that have been produced. Here, Jeong-Sun Seo and colleagues use a combination of recently developed genome sequencing and assembly technologies, including single-molecule real-time sequencing and next-generation mapping, to generate a higher-resolution reference genome with fewer gaps.
Although many people have had their genomes sequenced, non-Europeans are significantly under-represented in the overall pool. This new sequence gives scientists the opportunity to identify the parts of the sequence that are unique to the Korean population and to Asian populations generally. Information like this could help society head towards an era of precision medicine, in which healthcare will be tailored towards the genetic makeup of an individual.