The human genome project: a historical perspective. 2001

C Mundy
UK HGMP Resource Centre, Hinxton, Cambridge, CB10 1SB, UK. c.mundy@oxfordbiomedica.co.uk

Efforts in genomics over the last decade have created a stream of opportunities for drug discovery. High-throughput DNA sequencing has forced a re-definition of the paradigm for identification and validation of targets for drug development. One purpose of this review is to delineate the different approaches to sequence data generation and to establish their various uses for the definition of gene function. There still remain crucial dilemmas for the pharmaceutical industry. The multitude of potential targets can each absorb enormous validation costs and the vast majority are likely to prove academically interesting but useless for drug development. An additional dimension arises from the importance of sequence variation between different individuals. These differences can determine response to therapy and must inform both the drug development process and healthcare delivery. This presents great challenges and opportunities for drug companies, their customers and society as a whole. I will review the technological aspects in some detail and give my view of the legal and social aspects. The field of bioinformatics is at the core of functional and pharmacogenomics and advances will depend on the continuing evolution of tools to interpret data. For the most part this evolution is reviewed in the context of specific application areas rather than as a discrete field, in recognition of its all-pervasive effects.

UI MeSH Term Description Entries
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D016045 Human Genome Project A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME. Genome Project, Human,Human Genome Diversity Project,Human Genome Mapping Project,Genome Projects, Human,Human Genome Projects,Project, Human Genome,Projects, Human Genome
D049673 History, 20th Century Time period from 1901 through 2000 of the common era. 20th Century History,20th Cent. History (Medicine),20th Cent. History of Medicine,20th Cent. Medicine,Historical Events, 20th Century,History of Medicine, 20th Cent.,History, Twentieth Century,Medical History, 20th Cent.,Medicine, 20th Cent.,20th Cent. Histories (Medicine),20th Century Histories,Cent. Histories, 20th (Medicine),Cent. History, 20th (Medicine),Century Histories, 20th,Century Histories, Twentieth,Century History, 20th,Century History, Twentieth,Histories, 20th Cent. (Medicine),Histories, 20th Century,Histories, Twentieth Century,History, 20th Cent. (Medicine),Twentieth Century Histories,Twentieth Century History
D020161 Physical Chromosome Mapping Mapping of the linear order of genes on a chromosome with units indicating their distances by using methods other than genetic recombination. These methods include nucleotide sequencing, overlapping deletions in polytene chromosomes, and electron micrography of heteroduplex DNA. (From King & Stansfield, A Dictionary of Genetics, 5th ed) Chromosome Mapping, Physical,Physical Mapping (Genetics),Chromosome Mappings, Physical,Mapping, Physical Chromosome,Mappings, Physical Chromosome,Physical Chromosome Mappings,Physical Mappings (Genetics)
D020224 Expressed Sequence Tags Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived. ESTs,Expressed Sequence Tag,Sequence Tag, Expressed,Sequence Tags, Expressed,Tag, Expressed Sequence,Tags, Expressed Sequence
D020641 Polymorphism, Single Nucleotide A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. SNPs,Single Nucleotide Polymorphism,Nucleotide Polymorphism, Single,Nucleotide Polymorphisms, Single,Polymorphisms, Single Nucleotide,Single Nucleotide Polymorphisms

Related Publications

C Mundy
January 2011, Social work in public health,
C Mundy
January 1988, Basic life sciences,
C Mundy
June 2002, Journal of molecular biology,
C Mundy
July 1986, BioEssays : news and reviews in molecular, cellular and developmental biology,
C Mundy
January 2001, Servir (Lisbon, Portugal),
C Mundy
January 1998, Science (New York, N.Y.),
C Mundy
December 1998, The Journal of perinatal & neonatal nursing,
C Mundy
September 1999, Politics and the life sciences : the journal of the Association for Politics and the Life Sciences,
Copied contents to your clipboard!