Finishing the euchromatic sequence of the human genome
Finishing the euchromatic sequence of the human genome
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DOI：
10.1038/nature03001
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发表时间：
2004-10-21
期刊：
影响因子：
64.8
通讯作者：
Waterston, RH
中科院分区：
文献类型：
--
作者：
Collins, FS;Lander, ES;Waterston, RH
人类基因组序列编码了人类生理学的遗传指令，以及关于人类进化的丰富信息。2001年，国际人类基因组测序联盟报告了人类基因组常染色质部分的序列草案。从那时起，国际合作一直致力于将该草案转换为高准确性和几乎完全覆盖的基因组序列。在这里，我们报告这个整理过程的结果。目前的基因组序列（Build 35）包含28.5亿个核苷酸，仅被341个空位打断。它覆盖了近似99%的常染色质基因组，并且精确到近似每100，000个碱基1个事件的错误率。许多剩余的常染色质间隙与片段重复有关，需要采用新方法进行重点工作。这是第一个针对脊椎动物的近乎完整的序列，极大地提高了人类基因组生物分析的精确度，包括基因数量、出生和死亡的研究。值得注意的是，人类基因组似乎只编码20，000 - 25，000个蛋白质编码基因。这里报告的基因组序列应该成为未来几十年生物医学研究的坚实基础。
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 similar to99% of the euchromatic genome and is accurate to an error rate of similar to1 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.