Dissecting Human Disease in the Postgenomic Era
Top Cited Papers
- 16 February 2001
- journal article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 291 (5507), 1224-1229
- https://doi.org/10.1126/science.291.5507.1224
Abstract
GENOMICS AND MEDICINEThe genomics era has provided great opportunities for deciphering the genes that are mutated in human diseases. In their Future Directions' article, [Peltonen and McKusick][1] discuss how the human genome sequence and the completed genome sequences of other organisms will expand our understanding of human diseases, both those caused by mutations in a single gene and those where many genes and multiple factors are involved. From SNP maps to individual drug response profiling, the human genome sequence will lead to improved diagnostic testing for disease susceptibility genes and individually tailored treatment regimens for those who have already developed disease symptoms. [1]: http://www.sciencemag.org/cgi/content/full/291/5507/1224Keywords
This publication has 27 references indexed in Scilit:
- Primate DAX1, SRY, and SOX9: Evolutionary Stratification of Sex-Determination PathwayAmerican Journal of Human Genetics, 2001
- AtherosclerosisNature, 2000
- Modifier Genes Convert “Simple” Mendelian Disorders to Complex TraitsMolecular Genetics and Metabolism, 2000
- A Genetic Linkage Map of the Baboon (Papio hamadryas) Genome Based on Human Microsatellite PolymorphismsGenomics, 2000
- fw2.2 : A Quantitative Trait Locus Key to the Evolution of Tomato Fruit SizeScience, 2000
- Gene Targeting by Homologous Recombination in DrosophilaScience, 2000
- Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems DynamicsAmerican Journal of Human Genetics, 2000
- Marfan Syndrome: New Clues to Genotype—Phenotype CorrelationsAnnals of Medicine, 1999
- The relative importance of the X‐linked FCP locus and β‐globin haplotypes in determining haemoglobin F levels: a study of SS patients homozygous for βS haplotypesBritish Journal of Haematology, 1997
- Regulation and Control in Complex, Dynamic Metabolic Systems: Experimental Application of the Top-Down Approaches of Metabolic Control Analysis to Fatty Acid Oxidation and KetogenesisJournal of Theoretical Biology, 1996