Finishing the euchromatic sequence of the human genome

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 internati...

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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
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description 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.
doi_str_mv 10.1038/nature03001
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ispartof Nature, 2004-10, Vol.431 (7011), p.931-945
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1476-4687
language eng
recordid cdi_osti_scitechconnect_1153587
source Nature
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
title Finishing the euchromatic sequence of the human genome
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