1988 report from the U.S. Congress Office of Technology Assessment Mapping Our Genes-Genome Projects: How Big? How Fast? NTIS order #PB88-212402 CONTENTS Debates about Mapping the Human Genome............... The Focus of Genome Projects……:………… Misplaced Controversy About"The Human Genome project The Core Issue: Resource Allocation for Research Infrastructure,,.,,,.., 10 Organization of This Report 11 The role of congress Options for action by congress Appropriations to Federal Agencies ................... Access to information and materials. Organization of Genome Projects,.…,…,…,,…,,…,……………,12 Technology Transfer 15 Questions for Congressional Oversight
1988 report from the U.S. Congress Office of Technology Assessment Mapping Our Genes-Genome Projects: How Big? How Fast? NTIS order #PB88-212402
人类基因组计划目标() A rea Goal Achieved Date Genetic Map 2- to 5-CM 1-cM September 1994 resolution map resolution map (600-1,500 markers) 3,000 markers) Physical Map 30.000sTSs 52,000sTss October 1998 DNA Sequence 95%of gene-containing 99%o of gene-containing 2003 part of human sequence part of human sequence finished to 99.99% accuracy finished to 99.99% accuracy Capacity and Sequence 500 Mb/year Sequence >1, 400 Mb/year November 2002 Cost of Finished at $0.25 per finished base at <s0.09 per finished base November 2002 Sequence Human Sequence 100,000 mapped human SNPs 3.7 million mapped human SNPs February 2003 Variation Gene ldentification Full-length human cDNAs 15,000 full-length CDNAS March 2003 human cdnas Model Organisms Complete genome sequences of Finished genome sequences of April 2003 E coli, s, cerevisiae E coli s, cerevisiae April 2003 C elegans, D. melanogaster C elegans, D. melanogaster, plu swhole-genome drafts of several others, including: C. briggsaer D pseudoobscura, mouse and rat
人类基因组计划目标(1) Area Goal Achieved Date ------------------------------------------------------------------------------------------------ Genetic Map 2- to 5-cM 1-cM September 1994 resolution map resolution map (600 – 1,500 markers) (3,000 markers) Physical Map 30,000 STSs 52,000 STSs October 1998 DNA Sequence 95% of gene-containing 99% of gene-containing April 2003 part of human sequence part of human sequence finished to 99.99% accuracy finished to 99.99% accuracy Capacity and Sequence 500 Mb/year Sequence >1,400 Mb/year November 2002 Cost of Finished at < $0.25 per finished base at <$0.09 per finished base November 2002 Sequence Human Sequence 100,000 mapped human SNPs 3.7 million mapped human SNPs February 2003 Variation Gene Identification Full-length human cDNAs 15,000 full-length cDNAs March 2003 human cDNAs Model Organisms Complete genome sequences of Finished genome sequences of April 2003 E. coli, S .cerevisiae, E. coli, S .cerevisiae, April 2003 C. elegans, D. melanogaster C. elegans,D. melanogaster , plu swhole-genome drafts of several others, including: C. briggsae, D. pseudoobscura, mouse and rat
人类基因组计划目标(2) Area Achieved Date Functional Analysis Develop genomic-scale High-throughput 1994 technologies oligonucleotide synthesis DNA microarrays Eukaryotic, whole-genome knockouts(yeast) Scale-up of two-hybrid system for protein-protein interaction
人类基因组计划目标(2) Area Goal Achieved Date ------------------------------------------------------------------------------------------------------- Functional Analysis Develop genomic-scale High-throughput 1994 technologies oligonucleotide synthesis DNA microarrays Eukaryotic, whole-genome knockouts (yeast) Scale-up of two-hybrid system for protein-protein interaction
人类基因组计划(19982003 Human DNA Sequence:测序 Finish the complete human genome sequence by the end of2003,15年计划 Finish one-third of the human dna sequence by the end of 2001 Achieve coverage of at least 90% of the genome in a working draft based on mapped clones by the end of 2001 ● Make the sequence totally and freely accessible,即DNA顺序公开释放 Sequencing Technology:测序技术 e Continue to increase the throughput and reduce the cost of current sequencing technology注:提高产出,降低成本 Support research on novel technologies that can lead to significant improvements in sequencing technology.革新和改进测序技术 o Develop effective methods for the advanced development and introduction of new sequencing technologies into the sequencing process Human Genome Sequence variation:多态性变异研究 o Develop technologies for rapid large-scale identification and/or scoring of single nucleotide polymorphisms and other dNa sequence variants
人类基因组计划(1998-2003) Human DNA Sequence: 测序 Finish the complete human genome sequence by the end of 2003, 15年计划. Finish one-third of the human DNA sequence by the end of 2001. Achieve coverage of at least 90% of the genome in a working draft based on mapped clones by the end of 2001. Make the sequence totally and freely accessible, 即DNA顺序公开释放.. Sequencing Technology: 测序技术 Continue to increase the throughput and reduce the cost of current sequencing technology. 注: 提高产出,降低成本. Support research on novel technologies that can lead to significant improvements in sequencing technology. 革新和改进测序技术. Develop effective methods for the advanced development and introduction of new sequencing technologies into the sequencing process. Human Genome Sequence Variation: 多态性变异研究. Develop technologies for rapid, large-scale identification and/or scoring of single nucleotide polymorphisms and other DNA sequence variants
人类基因组计划的实施一负贵人 第一任首席科学家: James watson 因DNA顺序专利争论 于1992年辞职 第二任首席科学家 Francis collins
人类基因组计划的实施—负责人 第一任首席科学家: James Watson 因DNA顺序专利争论 于1992年辞职. 第二任首席科学家 Francis Collins