Population genomics: A bridge from evolutionary history to genetic medicine

Human Molecular Genetics

Volumn 10, Issue 20, 2001, Pages 2199-2207

  Jorde, L B ^a   Watkins, W S ^a   Bamshad, M J ^b  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

AFRICA; BIOGENESIS; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EVOLUTION; FORENSIC MEDICINE; GENE LOCATION; GENE MAPPING; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC PROCEDURES; GENETIC VARIABILITY; GENOME; HISTORY OF MEDICINE; HUMAN; MAJOR CLINICAL STUDY; MEDICAL GENETICS; MOLECULAR CLONING; POPULATION GENETICS; POPULATION RESEARCH; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS;

EID: 0035474085     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.20.2199     Document Type: Review

References (158)

1. Human evolution
2. Using mitochondrial and nuclear DNA markers to reconstruct human evolution
3. Shattuck lecture-medical and societal consequences of the Human Genome Project
4. Pharmacogenomics - It's not just pharmacogenetics
5. Genomic biology
6. Pharmacogenomics: Translating functional genomics into rational therapeutics
7. Pharmacogenetics and the practice of medicine
8. Allelic genealogy and human evolution
9. A recent common ancestry for human Y chromosomes
10. Extent of protein polymorphism and the neutral mutation theory
11. Alu evolution in human populations: Using the coalescent to estimate effective population size
12. Genetic structure of the ancestral population of modern humans
13. Archaic African and Asian lineages in the genetic ancestry of modern humans
14. Extensive nuclear DNA sequence diversity among chimpanzees
15. Branching pattern in the evolutionary tree for human mitochondrial DNA
16. Population growth makes waves in the distribution of pairwise genetic differences
17. Genetic traces of ancient demography
18. Genetic evidence for a Pleistocene population explosion
19. Population growth of human Y chromosomes: A study of Y chromosome microsatellites
20. Population genetic implications from sequence variation in four Y chromosome genes
21. Y chromosome sequence variation and the history of human populations
22. Microsatellite mutations and inferences about human demography
23. Microsatellite data support an early population expansion in Africa
24. Heterogeneity of microsatellite mutations within and between loci, and implications for human demographic histories
25. Human population expansion and microsatellite variation
26. Signatures of population expansion in microsatellite repeat data
27. Genetic evidence for a Paleolithic human population expansion in Africa
28. Linkage disequilibrium and recombination in hominid mitochondrial DNA
29. Questioning evidence for recombination in human mitochondrial DNA
30. Questioning evidence for recombination in human mitochondrial DNA
31. Mitochondrial genome variation and the origin of modern humans
32. Worldwide DNA sequence variation in a 10-kilobase noncoding region on human chromosome 22
33. Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1
34. A highly variable segment of human subterminal 16p reveals a history of population growth for modern humans outside Africa
35. A pleistocene population X-plosion?
36. Great ape DNA sequences reveal a reduced diversity and an expansion in humans
37. DNA variation in a 3-7 kb noncoding sequence 5′ of the CYP1A2 gene: Implications for human origins and gene mapping
38. Contrasting evolutionary histories of two introns of the duchenne muscular dystrophy gene, Dmd, in humans
39. Sequence variability of a human pseudogene
40. Hitchhiking under positive Darwinian selection
41. Genetic perspectives on human origins and differentiation
42. Order emerging from chaos in human evolutionary genetics
43. When did the human population size start increasing?
44. Low nucleotide diversity in man
45. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis
46. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
47. DNA variability and recombination rates at X-linked loci in humans
48. An apportionment of human DNA diversity
49. The distribution of human genetic diversity: A comparison of mitochondrial, autosomal, and Y chromosome data
50. African populations and the evolution of human mitochondrial DNA
51. The geographic distribution of Y chromosome variation
52. African origin of modern humans in East Asia: A tale of 12 000 Y chromosomes
53. A view of modern human origins from Y chromosome microsatellite variation
54. Microsatellite diversity and the demographic history of modern humans
55. Intra- and inter-population diversity at short tandem repeat loci in diverse populations of the world
56. Genetic variation at twentythree microsatellite loci in sixteen populations
57. High resolution of human evolutionary trees with polymorphic microsatellites
58. Short tandem repeat polymorphism evolution in humans
59. Patterns of ancestral human diversity: An analysis of Alu insertion and restriction site polymorphisms
60. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene
61. Sequence variation in the human angiotensin converting enzyme
62. Archaic lineages in the history of modern humans
63. DNA sequence variation in a non-coding region of low recombination on the human X chromosome
64. Genetic evidence for larger African population size during recent human evolution
65. The root of the phylogenetic tree of human populations
66. Improved analyses of human mtDNA sequences support a recent African origin for Homo sapiens
67. A nuclear 'fossil' of the mitochondrial D-loop and the origin of modern humans
68. Recent common ancestry of human Y chromosomes: Evidence from DNA sequence data
69. n polymorphisms in world populations
70. Evolutionary relationships of human populations on a global scale
71. A global haplotype analysis of the myotonic dystrophy locus: Implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations
72. Global patterns of linkage disequilibrium at the CD4 locus and modern human origins
73. A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus
74. Short tandem-repeat Polymorphism/Alu haplotype variation at the PLAT locus: Implications for modern human origins
75. Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations
76. Gene mapping in isolated populations: New roles for old friends?
77. FMR1 in global populations
78. Mitochondrial footprints of human expansions in Africa
79. Minisatellite diversity supports a recent African origin for modern humans
80. Multiregional, not multiple origins
81. Out of Africa? What do genes tell us?
82. Population bottlenecks and Pleistocene human evolution
83. Testing multiregionality of modern human origins
84. Genetic support for the out-of-Africa theory of human evolution
85. The DNA revolution in population genetics
86. Neandertal DNA sequences and the origin of modern humans
87. Molecular analysis of Neanderthal DNA from the northern Caucasus
88. The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
89. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
90. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
91. Searching for genetic determinants in the new millennium
92. The future of genetic studies of complex human diseases
93. Linkage disequilibrium and the search for complex disease genes
94. Single nucleotide polymorphisms and the future of genetic epidemiology
95. Allelic association between marker loci
96. Population choice in mapping genes for complex diseases
97. Prospects for whole-genome linkage disequilibrium mapping of common disease genes
98. Linkage disequilibrium mapping of complex disease: Fantasy or reality?
99. Linkage disequilibrium in humans: Models and data
100. Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region
101. Invited editorial: Linkage disequilibrium as a gene mapping tool
102. Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria
103. Linkage disequilibrium in the human insulin/insulin-like growth factor II region of human chromosome 11
104. Linkage disequilibria between pairs of loci within a highly polymorphic region of chromosome 2q
105. Haplotype analysis of hemochromatosis: Evaluation of different linkage-disequilibrium measures and evolution of disease chromosomes
106. Linkage disequilibrium in the neurofibromatosis 1 region: Implications for gene mapping
107. The distribution of linkage disequilibrium over anonymous genome regions
108. Linkage disequilibrium patterns vary with chromosomal location: A case study from the von Willebrand factor region
109. Nonuniform recombination within the human β-globin gene cluster
110. Extent and distribution of linkage disequilibrium in three genomic regions
111. Microsatellite variation and recombination rate in the human genome
112. Major factors influencing linkage disequilibrium by analysis of different chromosome regions in distinct populations: Demography, chromosome recombination frequency and selection
113. A scan for linkage disequilibrium across the human genome
114. Linkage disequilibrium in the human genome
115. Genetic epidemiology of single-nucleotide polymorphisms
116. Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28
117. Why is there so little intragenic linkage disequilibrium in humans?
118. Comparison of the power and accuracy of biallelic and microsatellite markers in population-based gene-mapping methods
119. Genome screens using linkage disequilibrium tests: Optimal marker characteristics and feasibility
120. An isochore transition in the NF1 gene region coincides with a switch in the extent of linkage disequilibrium
121. The sampling distribution of linkage disequilibrium under an infinite allele model without selection
122. The sampling distribution of linkage disequilibrium
123. The extent of linkage disequilibrium in four populations with distinct demographic histories
124. Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase
125. Genotyping of PCR-based polymorphisms and linkage disequilibrium analysis at the NF1 locus
126. Demographic history and linkage disequilibrium in human populations
127. The genome-wide distribution of background linkage disequilibrium in a population isolate
128. Significant evidence for linkage disequilibrium over a 5-cM region among Afrikaners
129. Consistent long-range linkage disequilibrium generated by admixture in a Bantu-Semitic hybrid population
130. Population structure in admixed populations: Effect of admixture dynamics on the pattern of linkage disequilibrium
131. Use of isolated inbred human populations for identification of disease genes
132. Positional cloning of disease genes: Advantages of genetic isolates
133. The role of linkage studies for common diseases
134. The genetically isolated populations of Finland and Sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes
135. Linkage disequilibrium in isolated populations: Finland and a young sub-population of Kuusamo
136. Gm3;5, 13, 14 and type 2 diabetes mellitus: An association in American Indians with genetic admixture
137. Genetic studies of alcoholism and substance dependence
138. The future of genetic case-control studies
139. Haplotype relative risks: An easy reliable way to construct a proper control sample for risk calculations
140. Invited editorial: The TDT and other family-based tests for linkage disequilibrium and association
141. Tests and estimates of allelic association in complex inheritance
142. Association mapping in structured populations
143. A cladistic analysis of phenotypic associations with haplotypes
144. Apolipoprotein E variation at the sequence haplotype level: Implications for the origin and maintenance of a major human polymorphism
145. Cladistic association analysis of Y chromosome effects on alcohol dependence and related personality traits
146. High polymorphism at the melanocortin receptor 1 locus in humans
147. Detection of the signature of natural selection in humans: Evidence from the Duffy blood group locus
148. Spatial and temporal distribution of the neutral polymorphism in the last ZFX intron: Analysis of the haplotype structure and genealogy
149. Human populations show reduced DNA sequence variation at the Factor IX locus
150. X chromosome evidence for ancient human histories
151. Is selection responsible for the low level of variation in the last intron of the ZFY locus?
152. Origins and affinities of modern humans: A comparison of mitochondrial and nuclear genetic data