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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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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