Needed for completion of the human genome hypothesis driven experiments and biologically re.pdf

Guigó et al. Page 1 8/30/2004 Needed for completion of the human genome: hypothesis driven experiments and biologically realistic mathematical models Roderic Guigó 1 , Ewan Birney 2 , Michael Brent 3 , Emmanouil Dermitzakis 4,9 , Lior Pachter 5 , Hugues Roest Crollius 6 , Victor Solovyev 7 , Michael Q. Zhang 8 1. Grup de Recerca en Informàtica Biomèdica, Institut Municipal d’Investigació Mèdica—Centre de Regulació Genòmica Universitat Pompeu Fabra, C/Dr. Aiguader 80, 08003 Barcelona, Catalonia, Spain 2. European Bioinformatics Insitute, Wellcome Trust Genome Campus Hinxton, Cambridge, CB10 1SD, United Kingdom 3. Laboratory for Computational Genomics, Campus Box 1045, Washington University One Brookings Drive, St. Louis, Missouri 63130 4. Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland 5. Department of Mathematics, University of California Berkeley 970 Evans Hall, Berkeley, California 94720 6. Genoscope CNRS UMR 8030 2 rue Gaston Crémieux, 91057 Evry Cedex, France 7. Department of Computer Science, Royal Holloway, University of London Egham, TW20 0EX, United Kingdom Guigó et al. Page 2 8/30/2004 8. Computational Biology and Bioinformatics, Cold Spring Harbour Laboratory, P.O. Box 100, 1 Bungtown Rd., Cold Spring Harbor, New York 11724 9. Present address: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK Correspondence should be addressed to RG Guigó et al. Page 3 8/30/2004 With the sponsorship of ``Fundació La Caixa we met in Barcelona, November 21st and 22nd, to analyze the reasons why, after the completion of the human genome sequence, the identification all protein coding genes and their variants remains a distant goal. This may came as a surprise to many, since we learn from the textbooks that the genetic code—the instructions by means of which the DNA sequence encodes the amino acid sequence o