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Nature Research, Nature, 7011(431), p. 931-945, 2004

DOI: 10.1038/nature03001

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Finishing the euchromatic sequence of the human genome

Journal article published in 2004 by Zahra Abdellah, John Weir, Alan Wells, Sarah Wells, Robert Welton, Paul West, Tony West, Angela Wheatley, Carl Wheatley, Gideon Wheeler, Hayley Whitaker, Adam White, Amelia White, Brian White, Johnathon White and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.