A next-generation human genome sequence
Abstract
Twenty-one years ago, two initial versions of a human genome sequence were published by Celera Genomics (1) and the Human Genome Project (HGP) (2). These assemblies were incomplete and replete with errors, but despite these flaws, the value of having a human genomic reference assembly was clear. The assembly produced by the HGP went on to be “finished” (3) and has been continually updated over the past decade (4). Despite the scientific and economic value of the reference (5), it has many shortcomings, including that it is not actually finished. On page 44 of this issue, Nurk et al. (6) provide the most complete reference assembly for any mammal. This new human reference is poised to have its own substantial impact on genome analysis and represents an important step to assembly models that represent all humans, which will better support personalized medicine, population genome analysis, and genome editing.
- Publication:
-
Science
- Pub Date:
- April 2022
- DOI:
- 10.1126/science.abo5367
- Bibcode:
- 2022Sci...376...34C