Genomic medicine - A primer

New England Journal of Medicine

Volumn 347, Issue 19, 2002, Pages 1512-1520

  Guttmacher, Alan E ^a   Collins, Francis S ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ALTERNATIVE RNA SPLICING; AUTOSOME; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENETICS; GENOME; HEREDITY; INHERITANCE; MEDICAL PRACTICE; MISSENSE MUTATION; MONOGENIC DISORDER; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RNA TRANSLATION;

GENETICS, MEDICAL; GENOME, HUMAN; GENOMICS; HEREDITY; HUMANS; MUTATION; PHARMACOGENETICS;

EID: 0037038224     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMra012240     Document Type: Review

References (36)

1. Adams FL. The Genuine Works of Hippocrates. Vol. 2. New York: William Wood, 1886:338.
2. Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921. [Errata, Nature 2001;411:720, 412:565.]
3. Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science 2001;291:1304-51. [Erratum, Science 2001;292:1838.]
4. McKusick VA, Ruddle FH. A new discipline, a new name, a new journal. Genomics 1987;1:1-2.
5. Armstrong K, Eisen A, Weber B. Assessing the risk of breast cancer. N Engl J Med 2000;342:564-71.
6. Lynch HT. Hereditary nonpolyposis colorectal cancer (HNPCC). Cytogenet Cell Genet 1999;86:130-5.
7. Michael NL. Host genetic influences on HIV-1 pathogenesis. Curr Opin Immunol 1999;11:466-74.
8. Small PM, Fujiwara PI. Management of tuberculosis in the United States. N Engl J Med 2001;345:189-200.
9. Mouradian MM. Recent advances in the genetics and pathogenesis of Parkinson disease. Neurology 2002;58:179-85.
10. St George-Hyslop PH. Molecular genetics of Alzheimer disease. Semin Neurol 1999;19:371-83.
11. McKusick VA. Mendelian Inheritance in Man: Catalogs of Human Genes and Genetic Disorders. 12th Ed. Baltimore: Johns Hopkins University Press, 1998.
12. Graveley BR. Alternative splicing: Increased diversity in the proteomic world. Trends Genet 2001;17:100-7.
13. Wallace DC. Mitochondrial diseases in man and mouse. Science 1999;283:1482-8.
14. Online Mendelian Inheritance in Man, OMIM (TM). Baltimore: McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, 2000. (Accessed October 15, 2002, at http://www.ncbi.nlm.nih.gov/omim/.)
15. Reik W, Walter J. Genomic imprinting: Parental influence on the genome. Nat Rev Genet 2001;2:21-32.
16. Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 2000;22:452-9.
17. Sinden RR. Biological implications of the DNA structures associated with disease-causing triplet repeats. Am J Hum Genet 1999;64:346-53.
18. Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic & Molecular Bases of Inherited Disease. 8th Ed. Vol. 2. New York: McGraw-Hill, 2001:2863-913.
19. Luzzatto L, Mehta A, Vulliamy T. Glucose 6-phosphate dehydrogenase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic & Molecular Bases of Inherited Disease. 8th Ed. Vol. 3. New York: McGraw-Hill, 2001:4517-53.
20. Goldberg YP, Nicholson DW, Rasper DM, et al. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet 1996;13:442-9.
21. Jin P, Warren ST. Understanding the molecular basis of fragile X syndrome. Hum Mol Genet 2000;9:901-8.
22. Todd JA. From genome to aetiology in a multifactorial disease, type 1 diabetes. Bioessays 1999;21:164-74.
23. Grant SFA, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I α 1 gene. Nat Genet 1996;14:203-5.
24. Horikawa Y, Oda N, Cox NJ, et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 2000;26:163-75. [Erratum, Nat Genet 2000;26:502.]
25. Dean M, Carrington M, Winkler C, et al. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Science 1996;273:1856-62. [Erratum, 1996;274:1069.]
26. Nathanson KN, Wooster R, Weber BL. Breast cancer genetics: What we know and what we need. Nat Med 2001;7:552-6. [Erratum, Nat Med 2001;7:749.]
27. Froguel P, Velho G. Molecular genetics of maturity-onset diabetes of the young. Trends Endocrinol Metab 1999;10:142-6.
28. Fearnhead NS, Britton MP, Bodmer WE. The ABC of APC. Hum Mol Genet 2001;10:721-33.
29. Major DA, Sane DC, Herrington DM. Cardiovascular implications of the factor V Leiden mutation. Am Heart J 2000;140:189-95.
30. Campion D, Dumanchin C, Hannequin D, et al. Early-onset autosomal dominant Alzheimer disease: Prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet 1999;65:664-70.
31. Roses AD. Alzheimer diseases: A model of gene mutations and susceptibility polymorphisms for complex psychiatric diseases. Am J Med Genet 1998;81:49-57.
32. Curtiss LK, Boisvert WA. Apolipoprotein E and atherosclerosis. Curr Opin Lipidol 2000;11:243-51.
33. Kuusisto J, Koivisto K, Kervinen K, et al. Association of apolipoprotein E phenotypes with late onset Alzheimer's disease: Population based study. BMJ 1994;309:636-8.
34. Roses AD. Apolipoprotein E alleles as risk factors in Alzheimer's disease. Annu Rev Med 1996;47:387-400.
35. Reich DE, Cargill M, Bolk S, et al. Linkage disequilibrium in the human genome. Nature 2001;411:199-204.
36. Goldstein DB, Weale ME. Population genetics: Linkage disequilibrium holds the key. Curr Biol 2001;11:R576-R579.