The DOI matches its Crossref record; 53 of the 54 references it cites were found in a registry or an index.
Searching for genetic determinants in the new millennium
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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“On the basis of the fixed-effect GWA meta-analysis results including all endometriosis cases from European studies, the nine previously reported SNPs explain 0.97% of the phenotypic variance on the liability scale19. The 10 new SNPs identified in this study together explain a further 0.78%, totalling to 1.75% of the phenotypic variance explained for endometriosis.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [19]
Citations
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1 of the 54 references couldn’t be matched to a known paper.
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Why Most Published Research Findings Are False
Ioannidis, J. P. A. (2005) · PLoS Medicine · doi:10.1371/journal.pmed.0020124 · Cited by 10,505
Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
Davey Smith, G., & Ebrahim, S. (2003) · International Journal of Epidemiology · doi:10.1093/ije/dyg070 · Cited by 5,882
Lusis, A. J. (2000) · Nature · doi:10.1038/35025203 · Cited by 4,880
Metadata
- Authors
- Risch, N. J.
- Affiliations
- Stanford Medicine (US)
- Corresponding author
- Risch, Neil J.
- ORCID
- Risch, Neil J.
- Venue
- Nature
- Published
- 2000-06
- Volume
- 405
- Issue
- 6788
- Pages
- 847-856
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- 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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