Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.

Site Tools

  • AAAS
  • Subscribe
  • Feedback

Site Search

Search Advanced

Science 28 November 1997:
Vol. 278. no. 5343, pp. 1580 - 1581
DOI: 10.1126/science.278.5343.1580
Prev | Table of Contents | Next

Policy Forum

Variations on a Theme: Cataloging Human DNA Sequence Variation

Francis S. Collins, Mark S. Guyer and Aravinda Chakravarti

New methods for the discovery and scoring of single-nucleotide polymorphisms (SNPs) offer the potential for considerably improved methods for genetic analysis of complex biological phenomena, particularly common diseases. In this Policy Forum, the authors call for a publicly supported effort to discover a large number of SNPs and to place the information in public databases. Participation in this public effort by the private sector would be particularly desirable.

F. S. Collins and M. S. Guyer are at the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-2152, USA. Collins e-mail: fc23a@nih.gov. Guyer e-mail: mg25m@nih.gov. A. Chakravarti is in the Department of Genetics, Center for Human Genetics, Case Western Reserve University, Cleveland, OH 44106, USA. E-mail: axc39{at}po.cwru.edu

Read the Full Text


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
A neural network model for constructing endophenotypes of common complex diseases: an application to male young-onset hypertension microarray data.
K.-S. Lynn, L.-L. Li, Y.-J. Lin, C.-H. Wang, S.-H. Sheng, J.-H. Lin, W. Liao, W.-L. Hsu, and W.-H. Pan (2009)
Bioinformatics 25, 981-988
   Abstract »    Full Text »    PDF »
Genetic Mapping in Human Disease.
D. Altshuler, M. J. Daly, and E. S. Lander (2008)
Science 322, 881-888
   Abstract »    Full Text »    PDF »
Race, genetics, and disease: questions of evidence, matters of consequence..
J. H. Fujimura, T. Duster, and R. Rajagopalan (2008)
Social Studies of Science 38, 643-656
   Abstract »    PDF »
Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure.
H. Kang, S. K. Lee, M.-H. Kim, J. Song, S. J. Bae, N. K. Kim, S.-H. Lee, and K. Kwack (2008)
Hum. Reprod. 23, 1457-1465
   Abstract »    Full Text »    PDF »
How to Interpret a Genome-wide Association Study.
T. A. Pearson and T. A. Manolio (2008)
JAMA 299, 1335-1344
   Abstract »    Full Text »    PDF »
Genetic variation in 1253 immune and inflammation genes and risk of non-Hodgkin lymphoma.
J. R. Cerhan, S. M. Ansell, Z. S. Fredericksen, N. E. Kay, M. Liebow, T. G. Call, A. Dogan, J. M. Cunningham, A. H. Wang, W. Liu-Mares, et al. (2007)
Blood 110, 4455-4463
   Abstract »    Full Text »    PDF »
Mathematical Ability of 10-Year-Old Boys and Girls: Genetic and Environmental Etiology of Typical and Low Performance.
Y. Kovas, C. M. A. Haworth, S. A. Petrill, and R. Plomin (2007)
J Learn Disabil 40, 554-567
   Abstract »    PDF »
Genetic Susceptibility to Peripheral Arterial Disease: A Dark Corner in Vascular Biology.
J. W. Knowles, T. L. Assimes, J. Li, T. Quertermous, and J. P. Cooke (2007)
Arterioscler. Thromb. Vasc. Biol. 27, 2068-2078
   Abstract »    Full Text »    PDF »
Association of Functional Polymorphisms of the Human Tryptophan Hydroxylase 2 Gene With Risk for Bipolar Disorder in Han Chinese.
Y.-M. J. Lin, S.-C. Chao, T.-M. Chen, T.-J. Lai, J.-S. Chen, and H. S. Sun (2007)
Arch Gen Psychiatry 64, 1015-1024
   Abstract »    Full Text »    PDF »
Dopamine Genes and Schizophrenia: Case Closed or Evidence Pending?.
M. E. Talkowski, M. Bamne, H. Mansour, and V. L. Nimgaonkar (2007)
Schizophr Bull 33, 1071-1081
   Abstract »    Full Text »    PDF »
Renin-Angiotensin System Haplotypes and the Risk of Myocardial Infarction and Stroke in Pharmacologically Treated Hypertensive Patients.
K. D. Marciante, J. C. Bis, M. J. Rieder, A. P. Reiner, T. Lumley, S. A. Monks, C. Kooperberg, C. Carlson, S. R. Heckbert, and B. M. Psaty (2007)
Am. J. Epidemiol. 166, 19-27
   Abstract »    Full Text »    PDF »
Systemic Effects of Smoking.
D. G. Yanbaeva, M. A. Dentener, E. C. Creutzberg, G. Wesseling, and E. F. M. Wouters (2007)
Chest 131, 1557-1566
   Abstract »    Full Text »    PDF »
Vitamin D Receptor Gene Haplotype Is Associated with Body Height and Bone Size.
Y. Fang, J. B. J. van Meurs, F. Rivadeneira, N. M. van Schoor, J. P. T. van Leeuwen, P. Lips, H. A. P. Pols, and A. G. Uitterlinden (2007)
J. Clin. Endocrinol. Metab. 92, 1491-1501
   Abstract »    Full Text »    PDF »
Fine mapping of a linkage region on chromosome 17p13 reveals that GABARAP and DLG4 are associated with vulnerability to nicotine dependence in European-Americans.
X.-Y. Lou, J. Z. Ma, D. Sun, T. J. Payne, and M. D. Li (2007)
Hum. Mol. Genet. 16, 142-153
   Abstract »    Full Text »    PDF »
PolyDoms: a whole genome database for the identification of non-synonymous coding SNPs with the potential to impact disease.
A. G. Jegga, S. Gowrisankar, J. Chen, and B. J. Aronow (2007)
Nucleic Acids Res. 35, D700-D706
   Abstract »    Full Text »    PDF »
A Systematic Assessment of Common Genetic Variation in CYP11A and Risk of Breast Cancer.
V. W. Setiawan, I. Cheng, D. O. Stram, E. Giorgi, M. C. Pike, D. Van Den Berg, L. Pooler, N. P. Burtt, L. Le Marchand, D. Altshuler, et al. (2006)
Cancer Res. 66, 12019-12025
   Abstract »    Full Text »    PDF »
Candidate Single Nucleotide Polymorphism Selection using Publicly Available Tools: A Guide for Epidemiologists.
P. Bhatti, D. M. Church, J. L. Rutter, J. P. Struewing, and A. J. Sigurdson (2006)
Am. J. Epidemiol. 164, 794-804
   Abstract »    Full Text »    PDF »
Regulation of gene expression in the mammalian eye and its relevance to eye disease.
T. E. Scheetz, K.-Y. A. Kim, R. E. Swiderski, A. R. Philp, T. A. Braun, K. L. Knudtson, A. M. Dorrance, G. F. DiBona, J. Huang, T. L. Casavant, et al. (2006)
PNAS 103, 14429-14434
   Abstract »    Full Text »    PDF »
SNP genotyping using alkali cleavage of RNA/DNA chimeras and MALDI time-of-flight mass spectrometry.
F. Mauger, O. Jaunay, V. Chamblain, F. Reichert, K. Bauer, I. G. Gut, and D. H. Gelfand (2006)
Nucleic Acids Res. 34, e18
   Abstract »    Full Text »    PDF »
Evidence for a Gene Influencing High-Density Lipoprotein Cholesterol on Chromosome 4q31.21.
Z. Dastani, L. Quiogue, C. Plaisier, J. C. Engert, M. Marcil, J. Genest, and P. Pajukanta (2006)
Arterioscler. Thromb. Vasc. Biol. 26, 392-397
   Abstract »    Full Text »    PDF »
Linkage disequilibrium sharing and haplotype-tagged SNP portability between populations.
W. Huang, Y. He, H. Wang, Y. Wang, Y. Liu, Y. Wang, X. Chu, Y. Wang, L. Xu, Y. Shen, et al. (2006)
PNAS 103, 1418-1421
   Abstract »    Full Text »    PDF »
An efficient comprehensive search algorithm for tagSNP selection using linkage disequilibrium criteria.
Z. S. Qin, S. Gopalakrishnan, and G. R. Abecasis (2006)
Bioinformatics 22, 220-225
   Abstract »    Full Text »    PDF »
Emerging technologies in DNA sequencing.
M. L. Metzker (2005)
Genome Res. 15, 1767-1776
   Abstract »    Full Text »    PDF »
PPC: an algorithm for accurate estimation of SNP allele frequencies in small equimolar pools of DNA using data from high density microarrays.
J. Brohede, R. Dunne, J. D. McKay, and G. N. Hannan (2005)
Nucleic Acids Res. 33, e142
   Abstract »    Full Text »    PDF »
ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
F. Ruschendorf and P. Nurnberg (2005)
Bioinformatics 21, 2123-2125
   Abstract »    Full Text »    PDF »
Association of the NuMA region on chromosome 11q13 with breast cancer susceptibility.
S. Kammerer, R. B. Roth, C. R. Hoyal, R. Reneland, G. Marnellos, M. Kiechle, U. Schwarz-Boeger, L. R. Griffiths, F. Ebner, J. Rehbock, et al. (2005)
PNAS 102, 2004-2009
   Abstract »    Full Text »    PDF »
Determination of Sequence Variation and Haplotype Structure for the Gonadotropin-Releasing Hormone (GnRH) and GnRH Receptor Genes: Investigation of Role in Pubertal Timing.
I. L. Sedlmeyer, C. L. Pearce, J. A. Trueman, J. L. Butler, T. Bersaglieri, A. P. Read, P. E. Clayton, L. N. Kolonel, B. E. Henderson, J. N. Hirschhorn, et al. (2005)
J. Clin. Endocrinol. Metab. 90, 1091-1099
   Abstract »    Full Text »    PDF »
Colorectal adenoma risk is modified by the interplay between polymorphisms in arachidonic acid pathway genes and fish consumption.
C. L.E. Siezen, A. I.M. van Leeuwen, N. R. Kram, M. E.M. Luken, H. J. van Kranen, and E. Kampman (2005)
Carcinogenesis 26, 449-457
   Abstract »    Full Text »    PDF »
Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays.
G. S. Sellick, C. Longman, J. Tolmie, R. Newbury-Ecob, L. Geenhalgh, S. Hughes, M. Whiteford, C. Garrett, and R. S. Houlston (2004)
Nucleic Acids Res. 32, e164
   Abstract »    Full Text »    PDF »
Pattern of Sequence Variation Across 213 Environmental Response Genes.
R. J. Livingston, A. von Niederhausern, A. G. Jegga, D. C. Crawford, C. S. Carlson, M. J. Rieder, S. Gowrisankar, B. J. Aronow, R. B. Weiss, and D. A. Nickerson (2004)
Genome Res. 14, 1821-1831
   Abstract »    Full Text »    PDF »
Identification of genes contributing to the obese yellow Avy phenotype: caloric restriction, genotype, diet x genotype interactions.
J. Kaput, K. G. Klein, E. J. Reyes, W. A. Kibbe, C. A. Cooney, B. Jovanovic, W. J. Visek, and G. L. Wolff (2004)
Physiol Genomics 18, 316-324
   Abstract »    Full Text »    PDF »
Haplotype and Missing Data Inference in Nuclear Families.
S. Lin, A. Chakravarti, and D. J. Cutler (2004)
Genome Res. 14, 1624-1632
   Abstract »    Full Text »    PDF »
Genomics and the circulation.
M. V. Podgoreanu and D. A. Schwinn (2004)
Br. J. Anaesth. 93, 140-148
   Abstract »    Full Text »    PDF »
The Environmental Genome Project: Phase I and Beyond.
S. H. Wilson and K. Olden (2004)
Mol. Interv. 4, 147-156
   Abstract »    Full Text »    PDF »
Distinguishing human ethnic groups by means of sequences from Helicobacter pylori: Lessons from Ladakh.
T. Wirth, X. Wang, B. Linz, R. P. Novick, J. K. Lum, M. Blaser, G. Morelli, D. Falush, and M. Achtman (2004)
PNAS 101, 4746-4751
   Abstract »    Full Text »    PDF »
Genomics in Sudden Cardiac Death.
D. E. Arking, S. S. Chugh, A. Chakravarti, and P. M. Spooner (2004)
Circ. Res. 94, 712-723
   Abstract »    Full Text »    PDF »
Genetic Determinants of Arterial Calcification Associated With Atherosclerosis.
T. M. Doherty, L. A. Fitzpatrick, A. Shaheen, T. B. Rajavashisth, and R. C. Detrano (2004)
Mayo Clin. Proc. 79, 197-210
   Abstract »    PDF »
Nutritional genomics: the next frontier in the postgenomic era.
J. Kaput and R. L. Rodriguez (2004)
Physiol Genomics 16, 166-177
   Abstract »    Full Text »    PDF »
Racial Meanings and Scientific Methods: Changing Policies for NIH-Sponsored Publications Reporting Human Variation.
J. Stevens (2003)
Journal of Health Politics Policy and Law 28, 1033-1088
   Abstract »    PDF »
The usefulness of different density SNP maps for disease association studies of common variants.
W. Y. S. Wang and J. A. Todd (2003)
Hum. Mol. Genet. 12, 3145-3149
   Abstract »    Full Text »    PDF »
Association of Solute Carrier Family 12 (Sodium/Chloride) Member 3 With Diabetic Nephropathy, Identified by Genome-Wide Analyses of Single Nucleotide Polymorphisms.
N. Tanaka, T. Babazono, S. Saito, A. Sekine, T. Tsunoda, M. Haneda, Y. Tanaka, T. Fujioka, K. Kaku, R. Kawamori, et al. (2003)
Diabetes 52, 2848-2853
   Abstract »    Full Text »    PDF »
Genetic Polymorphisms in Sepsis and Septic Shock: Role in Prognosis and Potential for Therapy.
C. L. Holmes, J. A. Russell, and K. R. Walley (2003)
Chest 124, 1103-1115
   Abstract »    Full Text »    PDF »
New Explicit Expressions for Relative Frequencies of Single-Nucleotide Polymorphisms With Application to Statistical Inference on Population Growth.
A. Polanski and M. Kimmel (2003)
Genetics 165, 427-436
   Abstract »    Full Text »    PDF »
Minimal haplotype tagging.
P. Sebastiani, R. Lazarus, S. T. Weiss, L. M. Kunkel, I. S. Kohane, and M. F. Ramoni (2003)
PNAS 100, 9900-9905
   Abstract »    Full Text »    PDF »
A specific haplotype of single nucleotide polymorphisms on chromosome 19q13.2-3 encompassing the gene RAI is indicative of post-menopausal breast cancer before age 55.
B. A. Nexo, U. Vogel, A. Olsen, T. Ketelsen, Z. Bukowy, B. L. Thomsen, H. Wallin, K. Overvad, and A. Tjonneland (2003)
Carcinogenesis 24, 899-904
   Abstract »    Full Text »    PDF »
Will the Genomics Revolution Revolutionize Psychiatry?.
K. R. Merikangas and N. Risch (2003)
Am J Psychiatry 160, 625-635
   Full Text »    PDF »
Identification of D19S246 as a Novel Lung Adenocarcinoma Susceptibility Locus by Genome Survey with 10-cM Resolution Microsatellite Markers.
N. Yanagitani, T. Kohno, J.-G. Kim, H. Kunitoh, T. Tamura, Y. Takei, S. Tsuchiya, R. Saito, and J. Yokota (2003)
Cancer Epidemiol. Biomarkers Prev. 12, 366-371
   Abstract »    Full Text »    PDF »
A haplotype map of the human genome.
M. Olivier (2003)
Physiol Genomics 13, 3-9
   Full Text »    PDF »
Association of the CD14 gene -159C polymorphism with progression of IgA nephropathy.
H-J Yoon, J H Shin, S H Yang, D-W Chae, H Kim, D-S Lee, H L Kim, S Kim, J S Lee, and Y S Kim (2003)
J. Med. Genet. 40, 104-108
   Abstract »    Full Text »    PDF »
Recombination hotspots rather than population history dominate linkage disequilibrium in the MHC class II region.
L. Kauppi, A. Sajantila, and A. J. Jeffreys (2003)
Hum. Mol. Genet. 12, 33-40
   Abstract »    Full Text »    PDF »
DNA Sequence Variation of Homo sapiens.
D.R. BENTLEY (2003)
Cold Spring Harb Symp Quant Biol 68, 55-64
   Abstract »    PDF »
Pedigree Analysis of Constitutional Delay of Growth and Maturation: Determination of Familial Aggregation and Inheritance Patterns.
I. L. Sedlmeyer, J. N. Hirschhorn, and M. R. Palmert (2002)
J. Clin. Endocrinol. Metab. 87, 5581-5586
   Abstract »    Full Text »    PDF »
SNP genotyping on a genome-wide amplified DOP-PCR template.
S. F. A. Grant, S. Steinlicht, U. Nentwich, R. Kern, B. Burwinkel, and R. Tolle (2002)
Nucleic Acids Res. 30, e125
   Abstract »    Full Text »    PDF »
No Association Between lck Gene Polymorphisms and Protein Level in Type 1 Diabetes.
S. Nervi, S. Nicodeme, C. Gartioux, C. Atlan, M. Lathrop, D. Reviron, P. Naquet, F. Matsuda, J. Imbert, and B. Vialettes (2002)
Diabetes 51, 3326-3330
   Abstract »    Full Text »    PDF »
Hitchhiking mapping: A population-based fine-mapping strategy for adaptive mutations in Drosophilamelanogaster.
B. Harr, M. Kauer, and C. Schlotterer (2002)
PNAS 99, 12949-12954
   Abstract »    Full Text »    PDF »
Genetics and Etiopathophysiology of Schizophrenia.
J. L. Sobell, M. J. Mikesell, and C. T. McMurray (2002)
Mayo Clin. Proc. 77, 1068-1082
   Abstract »    PDF »
hairy: A Quantitative Trait Locus for Drosophila Sensory Bristle Number.
C. Robin, R. F. Lyman, A. D. Long, C. H. Langley, and T. F. C. Mackay (2002)
Genetics 162, 155-164
   Abstract »    Full Text »    PDF »
Association of chromosome 19q13.2-3 haplotypes with basal cell carcinoma: tentative delineation of an involved region using data for single nucleotide polymorphisms in two cohorts.
E. Rockenbauer, M. H. Bendixen, Z. Bukowy, J. Yin, N. R. Jacobsen, M. Hedayati, U. Vogel, L. Grossman, L. Bolund, and B. A. Nexo (2002)
Carcinogenesis 23, 1149-1153
   Abstract »    Full Text »    PDF »
Evolution of Transcription Factor Binding Sites in Mammalian Gene Regulatory Regions: Conservation and Turnover.
E. T. Dermitzakis and A. G. Clark (2002)
Mol. Biol. Evol. 19, 1114-1121
   Abstract »    Full Text »    PDF »
The Structure of Haplotype Blocks in the Human Genome.
S. B. Gabriel, S. F. Schaffner, H. Nguyen, J. M. Moore, J. Roy, B. Blumenstiel, J. Higgins, M. DeFelice, A. Lochner, M. Faggart, et al. (2002)
Science 296, 2225-2229
   Abstract »    Full Text »    PDF »
Common haplotypes in five genes influence genetic variance of LDL and HDL cholesterol in the general population.
H. Knoblauch, A. Bauerfeind, C. Krahenbuhl, A. Daury, K. Rohde, S. Bejanin, L. Essioux, H. Schuster, F. C. Luft, and J. Georg Reich (2002)
Hum. Mol. Genet. 11, 1477-1485
   Abstract »    Full Text »    PDF »
A whole genome screen for linkage disequilibrium in multiple sclerosis confirms disease associations with regions previously linked to susceptibility.
S. Sawcer, M. Maranian, E. Setakis, V. Curwen, E. Akesson, A. Hensiek, F. Coraddu, R. Roxburgh, D. Sawcer, J. Gray, et al. (2002)
Brain 125, 1337-1347
   Abstract »    Full Text »    PDF »
Homozygosity and Linkage Disequilibrium.
C. Sabatti and N. Risch (2002)
Genetics 160, 1707-1719
   Abstract »    Full Text »    PDF »
Facile method for automated genotyping of single nucleotide polymorphisms by mass spectrometry.
S. Sauer, D. H. Gelfand, F. Boussicault, K. Bauer, F. Reichert, and I. G. Gut (2002)
Nucleic Acids Res. 30, e22
   Abstract »    Full Text »    PDF »
Heterogeneity of linkage disequilibrium in human genes has implications for association studies of common diseases.
L. Tiret, O. Poirier, V. Nicaud, S. Barbaux, S.-M. Herrmann, C. Perret, S. Raoux, C. Francomme, G. Lebard, D. Tregouet, et al. (2002)
Hum. Mol. Genet. 11, 419-429
   Abstract »    Full Text »    PDF »
Ordered catenation of sequence-tagged sites and multiplexed SNP genotyping by sequencing.
K. Higasa and K. Hayashi (2002)
Nucleic Acids Res. 30, e11
   Abstract »    Full Text »    PDF »
Kinetic Polymerase Chain Reaction on Pooled DNA: A High-Throughput, High-Efficiency Alternative in Genetic Epidemiological Studies.
J. Chen, S. Germer, R. Higuchi, G. Berkowitz, J. Godbold, and J. G. Wetmur (2002)
Cancer Epidemiol. Biomarkers Prev. 11, 131-136
   Abstract »    Full Text »
Multi-Center Genetic Study of Hypertension: The Family Blood Pressure Program (FBPP).
(2002)
Hypertension 39, 3-9
   Abstract »    Full Text »    PDF »
Evidence of positive selection acting at the human dopamine receptor D4 gene locus.
Y.-C. Ding, H.-C. Chi, D. L. Grady, A. Morishima, J. R. Kidd, K. K. Kidd, P. Flodman, M. A. Spence, S. Schuck, J. M. Swanson, et al. (2001)
PNAS
   Abstract »    Full Text »    PDF »
Allelic Frequencies and Patterns of Single-nucleotide Polymorphisms in Candidate Genes for Asthma and Atopy in Iceland.
H. HAKONARSON, U. S. BJORNSDOTTIR, E. OSTERMANN, T. ARNASON, A. E. ADALSTEINSDOTTIR, E. HALAPI, D. SHKOLNY, K. KRISTJANSSON, S. A. GUDNADOTTIR, M. L. FRIGGE, et al. (2001)
Am. J. Respir. Crit. Care Med. 164, 2036-2044
   Abstract »    Full Text »    PDF »
Genetics of COPD: present and future.
J.R. Hoidal (2001)
Eur. Respir. J. 18, 741-743
   Full Text »    PDF »
The birth and death of human single-nucleotide polymorphisms: new experimental evidence and implications for human history and medicine.
R. D. Miller and P.-Y. Kwok (2001)
Hum. Mol. Genet. 10, 2195-2198
   Abstract »    Full Text »    PDF »
Mismatch repair detection (MRD): high-throughput scanning for DNA variations.
M. Faham, S. Baharloo, S. Tomitaka, J. DeYoung, and N. B. Freimer (2001)
Hum. Mol. Genet. 10, 1657-1664
   Abstract »    Full Text »    PDF »
Rapid characterization of DNA oligomers and genotyping of single nucleotide polymorphism using nucleotide-specific mass tags.
F. Abdi, E. M. Bradbury, N. Doggett, and X. Chen (2001)
Nucleic Acids Res. 29, e61
   Abstract »    Full Text »    PDF »
Variation in the Timing of Puberty: Clinical Spectrum and Genetic Investigation.
M. R. Palmert and P. A. Boepple (2001)
J. Clin. Endocrinol. Metab. 86, 2364-2368
   Abstract »    Full Text »    PDF »
Genetic variation in mRNA coding sequences of highly conserved genes.
A. L. M. A. TEN ASBROEK, J. OLSEN, D. HOUSMAN, F. BAAS, and V. STANTON JR. (2001)
Physiol Genomics 5, 113-118
   Abstract »    Full Text »    PDF »
Genetics, environment and cognitive abilities: review and work in progress towards a genome scan for quantitative trait locus associations using DNA pooling.
R. PLOMIN and I. CRAIG (2001)
The British Journal of Psychiatry 178 , s41-s48
   Abstract »    Full Text »    PDF »
Prediction of deleterious human alleles.
S. Sunyaev, V. Ramensky, I. Koch, W. Lathe III, A. S. Kondrashov, and P. Bork (2001)
Hum. Mol. Genet. 10, 591-597
   Abstract »    Full Text »    PDF »
Implications of the Human Genome Project for Medical Science.
F. S. Collins and V. A. McKusick (2001)
JAMA 285, 540-544
   Abstract »    Full Text »    PDF »
A cSNP Map and Database for Human Chromosome 21.
S. Deutsch, C. Iseli, P. Bucher, S. E. Antonarakis, and H. S. Scott (2001)
Genome Res. 11, 300-307
   Abstract »    Full Text »
Association Analysis of {beta}2-Adrenergic Receptor Polymorphisms With Hypertension in Japanese.
N. Kato, T. Sugiyama, H. Morita, H. Kurihara, T. Sato, Y. Yamori, and Y. Yazaki (2001)
Hypertension 37, 286-292
   Abstract »    Full Text »    PDF »
Genetic Analysis of Case/Control Data Using Estimated Haplotype Frequencies: Application to APOE Locus Variation and Alzheimer's Disease.
D. Fallin, A. Cohen, L. Essioux, I. Chumakov, M. Blumenfeld, D. Cohen, and N. J. Schork (2001)
Genome Res. 11, 143-151
   Abstract »    Full Text »
A SNP Resource for Human Chromosome 22: Extracting Dense Clusters of SNPs From the Genomic Sequence.
E. Dawson, Y. Chen, S. Hunt, L. J. Smink, A. Hunt, K. Rice, S. Livingston, S. Bumpstead, R. Bruskiewich, P. Sham, et al. (2001)
Genome Res. 11, 170-178
   Abstract »    Full Text »
Sequence variability and candidate gene analysis in complex disease: association of {micro} opioid receptor gene variation with substance dependence.
M. R. Hoehe, K. Kopke, B. Wendel, K. Rohde, C. Flachmeier, K. K. Kidd, W. H. Berrettini, and G. M. Church (2000)
Hum. Mol. Genet. 9, 2895-2908
   Abstract »    Full Text »    PDF »
Functional characterization of Ape1 variants identified in the human population.
M. Z. Hadi, M. A. Coleman, K. Fidelis, H. W. Mohrenweiser, and D. M. Wilson III (2000)
Nucleic Acids Res. 28, 3871-3879
   Abstract »    Full Text »    PDF »
SBE-TAGS: An array-based method for efficient single-nucleotide polymorphism genotyping.
J. N. Hirschhorn, P. Sklar, K. Lindblad-Toh, Y.-M. Lim, M. Ruiz-Gutierrez, S. Bolk, B. Langhorst, S. Schaffner, E. Winchester, and E. S. Lander (2000)
PNAS
   Abstract »    Full Text »
Sequence Diversity and Large-Scale Typing of SNPs in the Human Apolipoprotein E Gene.
D. A. Nickerson, S. L. Taylor, S. M. Fullerton, K. M. Weiss, A. G. Clark, J. H. Stengård, V. Salomaa, E. Boerwinkle, and C. F. Sing (2000)
Genome Res. 10, 1532-1545
   Abstract »    Full Text »
Determination of Single-Nucleotide Polymorphisms by Real-time Pyrophosphate DNA Sequencing.
A. Alderborn, A. Kristofferson, and U. Hammerling (2000)
Genome Res. 10, 1249-1258
   Abstract »    Full Text »
Parallel Genotyping of Human SNPs Using Generic High-density Oligonucleotide Tag Arrays.
J.-B. Fan, X. Chen, M. K. Halushka, A. Berno, X. Huang, T. Ryder, R. J. Lipshutz, D. J. Lockhart, and A. Chakravarti (2000)
Genome Res. 10, 853-860
   Abstract »    Full Text »
Waiting for the working draft from the human genome project.
L. R Cardon and H. Watkins (2000)
BMJ 320, 1223-1224
   Full Text »
Single nucleotide polymorphism and linkage disequilibrium within the TCR {alpha}/{delta} locus.
M. F. Moffatt, J. A. Traherne, G. R. Abecasis, and W. O. C. M. Cookson (2000)
Hum. Mol. Genet. 9, 1011-1019
   Abstract »    Full Text »    PDF »
New Target Regions for Human Hypertension via Comparative Genomics.
M. Stoll, A. E. Kwitek-Black, A. W. Cowley Jr., E. L. Harris, S. B. Harrap, J. E. Krieger, M. P. Printz, A. P. Provoost, J. Sassard, and H. J. Jacob (2000)
Genome Res. 10, 473-482
   Abstract »    Full Text »
Involving Study Populations in the Review of Genetic Research.
R. R. Sharp and M. W. Foster (2000)
J. Law Med. Ethics 28, 41-51
   PDF »
A Single Nucleotide Polymorphism in the E-cadherin Gene Promoter Alters Transcriptional Activities.
L.-C. Li, R. M. Chui, M. Sasaki, K. Nakajima, G. Perinchery, H. C. Au, D. Nojima, P. Carroll, and R. Dahiya (2000)
Cancer Res. 60, 873-876
   Abstract »    Full Text »


To Advertise     Find Products

Science. ISSN 0036-8075 (print), 1095-9203 (online)