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The Sequence of the Human Genome J Craig Venter, et al . Science 291 1304 (2001)

The Sequence of the Human Genome J Craig Venter, et al . Science 291 1304 (2001). Dean Wagner BI820: Seminar in Quantitative and Computational Problems in Genomics 1/27/04. Why sequence the human genome?. To Understand: human evolution disease environment/ heredity. History.

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The Sequence of the Human Genome J Craig Venter, et al . Science 291 1304 (2001)

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  1. The Sequence of the Human GenomeJ Craig Venter, et al.Science291 1304 (2001) Dean Wagner BI820: Seminar in Quantitative and Computational Problems in Genomics 1/27/04

  2. Why sequence the human genome? • To Understand: • human evolution • disease • environment/ heredity

  3. History Venter, et al. Science 291, 1304 (2001) 1998 PE Biosystems 1987 Applied Biosystems 2.5-1.4Mya Homo habilis 13.7Bya Universe Formed 1977 Sanger 1985 Sinsheimer 1995 H. influenzae 6/17/00 1865/1900 Mendel 9/8/99 ? Celera 10/1/00 Seeburg, et al. 4-5Mya Ardipithecus ramidus 1986 Hood, et al. 1997 Weber and Myers 1953 Watson and Crick 1982 Bacteriophage  5/99 Dm 2000 Drosophila 120,000ya Homo sapiens (modern) 1990 HGP ISGSC Nature 409, 860 (2001)

  4. Sanger Inst.

  5. Sanger Inst.

  6. Why WGS Can’t Be Done Against a Whole Genome ShotgunPhillip GreenGenome Research7, 410 • unable to finish • error prone • unable to distinguish pseudogenes • Repeats • SNPs or errors • logistics • high cost

  7. How WGS Can Be Done Genomic Mapping by Fingerprinting Random Clones: A Mathematical Analysis Eric S. Lander and Michael S. Waterman Genomics2, 231 {e-cf()d }-1[ -1-  L e -c/(1- e -c)f(L, )dLd ]+  L(1- )f(L, )dLd  Proof: 4(1/22)k+ 4(1/22)k+1+ 4(1/22)k+2+... 4(1/22)k(1+ 4(1/22)

  8. Results • >26,000 protein-encoding transcripts • ~12,000 more? • 2.1M SNPs • <1% SNPs variation in proteins • 1/1,250nt difference be individuals

  9. Clone by Clone accuracy modularity target regions WGS speed cost early broad samplings Compare

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