Finishing the euchromatic sequence of the human genome

Zahra Abdellah;Alireza Ahmadi;Shahana Ahmed;Matthew Aimable;Rachael Ainscough;Jeff Almeida;Claire Almond;Andrew Ambler;Karen Ambrose;Kerrie Ambrose;Robert Andrew;Daniel Andrews;Neil Andrews;Dan Andrews;Eva Apweiler;Hazel Arbery;Beth Archer;Gareth Ash;Kevin Ashcroft;Jennifer Ashurst;Robert Ashwell;Deborah Atkin;Andrea Atkinson;Barry Atkinson;John Attwood;Keith Aubin;Katherine Auger;Terry Avis;Anne Babbage;Sarah Babbage;Joanne Bacon;Claire Bagguley;Jonathan Bailey;Andrew Baker;Ruby Banerjee;Simon Bardill;Darren Barker;Gary Barker;Daniel Barker;Karen Barlow;Laurent Baron;Zhu Chen;Songnian Hu;Shengbin Li;Yan Shen;Chaoguang Tian;Qingfa Wu;Huanming Yang;Jun Yu;Zhen Zhu

Wellcome Sanger Institute;CAS - Beijing Institute of Genomics;National Human Genome Center;University of Communication;Xi'an Jiaotong University;Chinese National Human Genome Center;Peking University

发表时间:2004-10-21

期 刊:Nature

语 言:English

U R L: http://www.scopus.com/inward/record.url?scp=7244245762&partnerID=8YFLogxK

摘要

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 enome 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.

被引量

期刊度量

Scopus度量

年份 CiteScore SJR SNIP
1996
1997
1998
1999 15.599 7.187
2000 11.917 6.857
2001 9.874 6.767
2002 10.114 7.184
2003 11.384 7.492
2004 11.222 7.538
2005 10.333 7.199
2006 9.702 7.156
2007 10.344 7.097
2008 13.17 7.307
2009 15.185 8.234
2010 16.465 8.204
2011 53.1 17.598 8.667
2012 51 17.546 8.409
2013 50.9 19.69 8.511
2014 49.9 18.78 7.918
2015 51.6 19.669 8.08
2016 49.2 18.389 7.901
2017 53.7 17.875 8.679
2018 55.7 16.345 9.448
2019 51 14.047 8.546
2020 56.9 15.993 9.249
2021 56

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