Genome: Annotated Bibliography

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J. Craig Venter1,*, Mark D. Adams1, Eugene W. Myers1, Peter W. Li1, Richard J. Mural1, Granger G. Sutton1, Hamilton O. Smith1, Mark Yandell1, Cheryl A. Evans1, Robert A. Holt1, Jeannine D. Gocayne1, Peter Amanatides1, Richard M. Ballew1, Daniel H. Huson1, Jennifer Russo Wortman1, Qing Zhang1, Chinnappa D. Kodira1, Xiangqun H. Zheng1, Lin Chen1, Marian Skupski1, Gangadharan Subramanian1, Paul D. Thomas1, Jinghui Zhang1, George L. Gabor Miklos2, Catherine Nelson3, Samuel Broder1, Andrew G. Clark4, Joe Nadeau5, Victor A. McKusick6, Norton Zinder7, Arnold J. Levine7, Richard J. Roberts8, Mel Simon9, Carolyn Slayman10, Michael Hunkapiller11,…show more content…
The 14.8-billion bp DNA sequence was generated over 9 months from 27,271,853 high-quality sequence reads (5.11-fold coverage of the genome) from both ends of plasmid clones made from the DNA of five individuals. Two assembly strategies—a whole-genome assembly and a regional chromosome assembly—were used, each combining sequence data from Celera and the publicly funded genome effort. The public data were shredded into 550-bp segments to create a 2.9-fold coverage of those genome regions that had been sequenced, without including biases inherent in the cloning and assembly procedure used by the publicly funded group. This brought the effective coverage in the assemblies to eightfold, reducing the number and size of gaps in the final assembly over what would be obtained with 5.11-fold coverage. The two assembly strategies yielded very similar results that largely agree with independent mapping data. The assemblies effectively cover the euchromatic regions of the human chromosomes. More than 90% of the genome is in scaffold assemblies of 100,000 bp or more, and 25% of the genome is in scaffolds of 10 million bp or larger. Analysis of the genome sequence revealed 26,588 protein-encoding transcripts for which there was strong corroborating evidence and an additional ∼12,000 computationally derived genes with mouse matches or

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