October 2007 | Volume 5 | Issue 10 | e254 | Samuel Levy, Granger Sutton, Pauline C. Ng, Lars Feuk, Aaron L. Halpern, Brian P. Walenz, Nelson Axelrod, Jiaqi Huang, Ewen F. Kirkness, Gennady Denisov, Yuan Lin, Jeffrey R. MacDonald, Andy Wing Chun Pang, Mary Shago, Timothy B. Stockwell, Alexia Tsiamouri, Vineet Bafna, Vikas Bansal, Saul A. Kravitz, Dana A. Busam, Karen Y. Beeson, Tina C. McIntosh, Karin A. Remington, Josep F. Abril, John Gill, Jon Borman, Yu-Hui Rogers, Marvin E. Frazier, Stephen W. Scherer, Robert L. Strausberg, J. Craig Venter
The article presents the genome sequence of an individual human, J. Craig Venter, generated using Sanger dideoxy sequencing and assembled into 4,528 scaffolds, totaling 2,810 million bases with approximately 7.5-fold coverage. The authors developed a modified Celera assembler to identify and compare alternate alleles within the diploid genome. Comparison with the National Center for Biotechnology Information (NCBI) human reference assembly revealed over 4.1 million DNA variants, including SNPs, indels, inversions, and segmental duplications. Non-SNP genetic alterations account for 22% of all events but involve 74% of variant bases, highlighting their importance in defining the diploid genome structure. The study also used a novel haplotype assembly strategy to span 1.5 Gb of genome sequence in segments >200 kb, providing a detailed molecular portrait of a diploid human genome. This work serves as a foundation for future genome comparisons and individualized genomic information.The article presents the genome sequence of an individual human, J. Craig Venter, generated using Sanger dideoxy sequencing and assembled into 4,528 scaffolds, totaling 2,810 million bases with approximately 7.5-fold coverage. The authors developed a modified Celera assembler to identify and compare alternate alleles within the diploid genome. Comparison with the National Center for Biotechnology Information (NCBI) human reference assembly revealed over 4.1 million DNA variants, including SNPs, indels, inversions, and segmental duplications. Non-SNP genetic alterations account for 22% of all events but involve 74% of variant bases, highlighting their importance in defining the diploid genome structure. The study also used a novel haplotype assembly strategy to span 1.5 Gb of genome sequence in segments >200 kb, providing a detailed molecular portrait of a diploid human genome. This work serves as a foundation for future genome comparisons and individualized genomic information.