Finishing the euchromatic sequence of the human genome

Finishing the euchromatic sequence of the human genome

21 OCTOBER 2004 | International Human Genome Sequencing Consortium*
The article describes the completion of the euchromatic sequence of the human genome, which is a significant milestone in the Human Genome Project (HGP). The International Human Genome Sequencing Consortium (IHGSC) has worked to convert the initial draft sequence into a high-accuracy, nearly complete genome sequence. The current sequence, Build 35, covers 2.85 billion nucleotides with only 341 gaps, achieving an error rate of approximately 1 event per 100,000 bases. This near-complete sequence covers about 99% of the euchromatic genome and significantly improves the precision of biological analyses, including studies of gene number, birth and death. The sequence reveals that the human genome encodes 20,000–25,000 protein-coding genes. The finishing process involved two main components: producing finished maps and finished clones. The IHGSC used a hierarchical strategy, combining sequence-tagged site (STS) maps and clone maps to anchor and resolve gaps. The sequence is now being used to study various aspects of the human genome, such as segmental duplications and protein-coding genes, with substantial improvements over the initial draft sequence.The article describes the completion of the euchromatic sequence of the human genome, which is a significant milestone in the Human Genome Project (HGP). The International Human Genome Sequencing Consortium (IHGSC) has worked to convert the initial draft sequence into a high-accuracy, nearly complete genome sequence. The current sequence, Build 35, covers 2.85 billion nucleotides with only 341 gaps, achieving an error rate of approximately 1 event per 100,000 bases. This near-complete sequence covers about 99% of the euchromatic genome and significantly improves the precision of biological analyses, including studies of gene number, birth and death. The sequence reveals that the human genome encodes 20,000–25,000 protein-coding genes. The finishing process involved two main components: producing finished maps and finished clones. The IHGSC used a hierarchical strategy, combining sequence-tagged site (STS) maps and clone maps to anchor and resolve gaps. The sequence is now being used to study various aspects of the human genome, such as segmental duplications and protein-coding genes, with substantial improvements over the initial draft sequence.
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[slides and audio] Finishing the euchromatic sequence of the human genome