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

Searching for genetic determinants in the new millennium

Risch, Neil J.·2000·Nature

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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Crossref · 10.1038/35015718

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53 of 53 references verified0 citation errors · 0 not checkable

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  • The nine previously reported SNPs explain 0.97% of phenotypic variance on the liability scale; the 10 new SNPs explain a further 0.78%, totalling 1.75% of phenotypic variance explained for endometriosis.

    “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.”

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Authors
Risch, N. J.
Affiliations
Stanford Medicine (US)
Corresponding author
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
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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