Cited by 1,839Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and AnimalsGenomics and Rare Diseases

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Searching for genetic determinants in the new millennium

Risch, Neil J.·2000·Nature

DOI 10.1038/35015718

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Abstract

Human genetics is now at a critical juncture. The molecular methods used successfully to identify the genes underlying rare mendelian syndromes are failing to find the numerous genes causing more common, familial, non-mendelian diseases. With the human genome sequence nearing completion, new opportunities are being presented for unravelling the complex genetic basis of non-mendelian disorders based on large-scale genome-wide studies. Considerable debate has arisen regarding the best approach to take. In this review I discuss these issues, together with suggestions for optimal post-genome strategies.

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Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
Botstein, D., White, R. L., Skolnick, M. H., & Davis, R. W. (1980) · Europe PMC (PubMed Central) · Cited by 8,327
The Future of Genetic Studies of Complex Human Diseases
Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355
Self-citation
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
Lander, E. S., & Kruglyak, L. (1995) · Nature Genetics · doi:10.1038/ng1195-241 · Cited by 5,236
Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).
Spielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993) · PubMed · Cited by 3,679
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R., Ellis, M. C., Fullan, A., et al. (1996) · Nature Genetics · doi:10.1038/ng0896-399 · Cited by 3,664
Self-citation
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.
Weber, J. L., & May, P. E. (1989) · Europe PMC (PubMed Central) · Cited by 3,399
Genomic Control for Association Studies
Devlin, B., & Roeder, K. (1999) · Biometrics · doi:10.1111/j.0006-341x.1999.00997.x · Cited by 3,162 · cited 1×
“In fact, the same markers can also be used to assess the significance of any putative associatio”
A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.
Litt, M., & Luty, J. A. (1989) · PubMed · Cited by 1,962
Sequential tests for the detection of linkage.
Morton, N. E. (1955) · PubMed · Cited by 1,590
An introduction to genetic statistics
Kempthorne, O. (1957) · Medical Entomology and Zoology · Cited by 1,552

Show all 54 references

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Lusis, A. J. (2000) · Nature · doi:10.1038/35025203 · Cited by 4,880
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Ramensky, V. E. (2002) · Nucleic Acids Research · doi:10.1093/nar/gkf493 · Cited by 2,299
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Juma, S., Imrhan, V., Vijayagopal, P., & Prasad, C. (2014) · Lifestyle Genomics · doi:10.1159/000370213 · Cited by 1,908
Score Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous
Schaid, D. J., Rowland, C. M., Tines, D. E., Jacobson, R. M., & Poland, G. A. (2002) · The American Journal of Human Genetics · doi:10.1086/338688 · Cited by 1,777
Assessing the Probability That a Positive Report is False: An Approach for Molecular Epidemiology Studies
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Genetic basis for individual variations in pain perception and the development of a chronic pain condition
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Are Rare Variants Responsible for Susceptibility to Complex Diseases?
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Wang, K., Tang, Z., Yang, C. J., Kim, Y., Fang, X., Li, W., Wu, Y., Medley, C. D., Cao, Z. C., Li, J., et al. (2008) · Angewandte Chemie International Edition · doi:10.1002/anie.200800370 · Cited by 640
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Altmüller, J., Palmer, L. J., Fischer, G., Scherb, H., & Wjst, M. (2001) · The American Journal of Human Genetics · doi:10.1086/324069 · Cited by 559
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The ‘Fractionable Autism Triad’: A Review of Evidence from Behavioural, Genetic, Cognitive and Neural Research
Happé, F., & Ronald, A. (2008) · Neuropsychology Review · doi:10.1007/s11065-008-9076-8 · Cited by 498
SNP frequency, haplotype structure and linkage disequilibrium in elite maize inbred lines
Ching, A., Caldwell, K. S., Jung, M., Dolan, M., Smith, O. S., Tingey, S. V., Morgante, M., & Rafalski, A. J. (2002) · BMC Genetics · doi:10.1186/1471-2156-3-19 · Cited by 483
Methods for High-Density Admixture Mapping of Disease Genes
Patterson, N. J., Hattangadi, N., Lane, B., Lohmueller, K. E., Hafler, D. A., Oksenberg, J. R., Hauser, S. L., Smith, M. W., O’Brien, S. J., Altshuler, D., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/420871 · Cited by 475
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Association studies for finding cancer-susceptibility genetic variants
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A method for fine mapping quantitative trait loci in outbred animal stocks
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Intelligence: Genetics, Genes, and Genomics.
Plomin, R. J., & Spinath, F. M. (2004) · Journal of Personality and Social Psychology · doi:10.1037/0022-3514.86.1.112 · Cited by 428
Case–Control Studies of Association in Structured or Admixed Populations
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Precision and error of three‐dimensional phenotypic measures acquired from 3dMD photogrammetric images
Aldridge, K. J., Boyadjiev, S. A., Capone, G. T., DeLeon, V. B., & Richtsmeier, J. T. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30959 · Cited by 393
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Nicoloso, M. S., Sun, H., Spizzo, R., Kim, H., Wickramasinghe, P., Shimizu, M., Wojcik, S. E., Ferdin, J., Kunej, T., Xiao, L., et al. (2010) · Cancer Research · doi:10.1158/0008-5472.can-09-3541 · Cited by 381
Plant molecular diversity and applications to genomics
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Rationally designed molecular beacons for bioanalytical and biomedical applications
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Increased risk of incident HIV during pregnancy in Rakai, Uganda: a prospective study
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The heritability of life history strategy: The k‐factor, covitality, and personality
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Retrotransposons as epigenetic mediators of phenotypic variation in mammals
Whitelaw, E., & Martin, D. I. K. (2001) · Nature Genetics · doi:10.1038/86850 · Cited by 353
Spurious genetic associations.
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Human genome sequence variation and the influence of gene history, mutation and recombination
Reich, D., Schaffner, S. F., Daly, M. J., McVean, G., Mullikin, J. C., Higgins, J. M., Richter, D. J., Lander, E. S., & Altshuler, D. (2002) · Nature Genetics · doi:10.1038/ng947 · Cited by 335
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Ebstein, R. P., Israel, S., Chew, S. H., Zhong, S., & Knafo, A. (2010) · Neuron · doi:10.1016/j.neuron.2010.02.020 · Cited by 323
Association mapping of yield and its components in rice cultivars
Agrama, H. A., Eizenga, G. C., & Yan, W. (2007) · Molecular Breeding · doi:10.1007/s11032-006-9066-6 · Cited by 318
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Finding the molecular basis of quatitative traits: successes and pitfalls
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Genetics of Crohn disease, an archetypal inflammatory barrier disease
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Authors: Risch, N. J.
Affiliations: Stanford Medicine (US)
Corresponding author: Risch, Neil J.
ORCID: Risch, Neil J.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2000-06
Volume: 405
Issue: 6788
Pages: 847-856
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/35015718
OpenAlex: W1551600243
Cited by: 1,839
References: 54
Citations by year: 2026: 2 · 2025: 9 · 2024: 8 · 2023: 11 · 2022: 8 · 2021: 28 · 2020: 13 · 2019: 20 · 2018: 27 · 2017: 28 · 2016: 33 · 2015: 39 · 2014: 53 · 2013: 40 · 2012: 57
FWCI: 15.98
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
RePEc: Research Papers in Economics (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: genetic factors, common complex diseases, familial disease, genome-wide association study, human genome sequence, gene identification
MeSH terms: Biotechnology, Genetics, Medical, Humans, Genome, Human, Computational Biology, Genetic Predisposition to Disease, Genetic Diseases, Inborn

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Searching for genetic determinants in the new millennium

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