Finishing the euchromatic sequence of the human genome.

TitleFinishing the euchromatic sequence of the human genome.
Publication TypeJournal Article
Year of Publication2004
Corporate Authors
JournalNature
Volume431
Issue7011
Pagination931-45
Date Published2004 Oct 21
ISSN1476-4687
KeywordsAmino Acid Sequence, Base Sequence, Centromere, Chromosomes, Artificial, Bacterial, Chromosomes, Human, DNA, Complementary, Euchromatin, Gene Duplication, Genes, Genome, Human, Heterochromatin, Human Genome Project, Humans, Molecular Sequence Data, Multigene Family, Physical Chromosome Mapping, Plasmids, Pseudogenes, Research Design, Sensitivity and Specificity, Sequence Analysis, DNA, Telomere
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.

DOI10.1038/nature03001
Alternate JournalNature
PubMed ID15496913
Grant ListU54 HG003273 / HG / NHGRI NIH HHS / United States