1. Finishing the euchromatic sequence of the human genome
- Author
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Daniel Leongamornlert, Mike Kay, Richard Mott, Richard Redon, Tim @timjph Hubbard, Krishnaveni Palaniappan, Fumiaki Ito, Christina Cuomo, Maurice Pitesky, Scott Thurston, Javier Santoyo-Lopez, Laura Clarke, Jean-Louis Petit, Joseph Rodriguez, Robert Nicol, Xose Fernandez, Michael Schuster, Jaime Hughes, Jessica Wollard, Caleb Webber, Adam Siepel, Véronique De Berardinis, Ralf Sudbrak, Takehiko Itoh, Stephanie Malfatti, Panos Deloukas, Charles Steward, Gernot Glöckner, Ernest Lewis, Andy Smith, Judith Flanagan, Kim Pruitt, Sarah Lindsay, MICHAEL MCLELLAN, Angie Hinrichs, Charles Whittaker, Stuart Gammon, Rachel Elizabeth Rigby, Richard Dobson, Ian Dunham, and Stephen Keenan
- Subjects
Genetics ,Whole genome sequencing ,Multidisciplinary ,Sequence analysis ,Pseudogene ,Human genome ,Computational biology ,Biology ,ENCODE ,Gene ,Genome ,Segmental duplication - Abstract
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers approximately 99% of the euchromatic genome and is accurate to an error rate of approximately 1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human genome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead.
- Published
- 2004