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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]
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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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