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.
Amy Reily, Aye Wollam, Catrina Fronick, Chad Tomlinson, Colin Kremitzki, Craig Pohl, Aaron P Graubert, Edward Belter, Elaine R. Mardis, Ph.D., Feiyu Du, Jason Walker, Jason Waligorski, Jennifer Maher, Joanne Nelson, Joelle Veizer, Kelsi Rotter, Kristine Wylie, Ph.D., LaDeana Hillier, Laura Courtney, Lee Trani, Li Ding, Ph.D., Lucinda Fulton, Robert Fulton, Matthew Cordes, Mike McLellan, Michael Wendl, Ph.D., Patrick Minx, Richard K. Wilson, Ph.D., Sara Kohlberg, Shawn Leonard, Tracie Miner Deluca, William Nash, Andrew Levy, Kyriena Schatzkamer, Scott Kruchowski