Finishing the euchromatic sequence of the human genome

• Published in: Nature 2004-10, Vol.431 (7011), p.931-945
• Main Author: Human Genome Sequencing Consortium, International
• Format: Article
• Language: English
• Subjects: Amino Acid Sequence; Base Sequence; Biological analysis; Biological and medical sciences; Biomedical research; Centromere - genetics; Chromosomes, Artificial, Bacterial; Chromosomes, Human - genetics; Classical genetics, quantitative genetics, hybrids; DNA, Complementary - genetics; Euchromatin - genetics; Fundamental and applied biological sciences. Psychology; Gene Duplication; Genes; Genes - genetics; Genetic research; Genetics of eukaryotes. Biological and molecular evolution; Genome, Human; Heterochromatin - genetics; Human; Human Genome Project; Humanities and Social Sciences; Humans; International cooperation; Life Sciences; Molecular Sequence Data; multidisciplinary; Multigene Family - genetics; Physical Chromosome Mapping; Plasmids; Pseudogenes - genetics; Research Design; Science; Science (multidisciplinary); Sensitivity and Specificity; Sequence Analysis, DNA; Telomere - genetics
• ISSN: 0028-0836; 1476-4687
• DOI: 10.1038/nature03001

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 ∼99% of the euchromatic genome and is accurate to an error rate of ∼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.