Uncovering the roles of rare variants in common disease through whole-genome sequencing

Cirulli, Elizabeth T.; Goldstein, David B.

doi:10.1038/nrg2779

Cited by 1,136Genetic Associations and EpidemiologyGenomics and Rare DiseasesGenetic Mapping and Diversity in Plants and Animals

Uncovering the roles of rare variants in common disease through whole-genome sequencing

Cirulli, Elizabeth T., Goldstein, David B.·2010·Nature Reviews Genetics

DOI 10.1038/nrg2779

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Abstract

Although genome-wide association (GWA) studies for common variants have thus far succeeded in explaining only a modest fraction of the genetic components of human common diseases, recent advances in next-generation sequencing technologies could rapidly facilitate substantial progress. This outcome is expected if much of the missing genetic control is due to gene variants that are too rare to be picked up by GWA studies and have relatively large effects on risk. Here, we evaluate the evidence for an important role of rare gene variants of major effect in common diseases and outline discovery strategies for their identification.

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There is no evidence that rare single nucleotide variants at the same loci are the major source of genetic variance.
“There is no evidence to support the hypothesis that rare single nucleotide variants at the same loci are the major source of genetic variance9”
From Rare and common variants: twenty arguments (2012) · cites this paper as [9]

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Authors: Cirulli, E. T., & Goldstein, D. B.
Affiliations: Duke University (US)
Corresponding author: Goldstein, David B.
ORCID: Cirulli, Elizabeth T.
Goldstein, David B.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2010-06
Volume: 11
Issue: 6
Pages: 415-425
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg2779
OpenAlex: W2091583677
Cited by: 1,136
References: 108
Citations by year: 2026: 19 · 2025: 21 · 2024: 25 · 2023: 25 · 2022: 31 · 2021: 53 · 2020: 29 · 2019: 53 · 2018: 68 · 2017: 76 · 2016: 93 · 2015: 94 · 2014: 112 · 2013: 124 · 2012: 141
FWCI: 14.60
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Keywords: rare variants, common diseases, whole genome sequencing, genetic risk factors, missing heritability, complex diseases, genetic susceptibility
MeSH terms: Animals, Chromosome Mapping, Disease, Humans, Models, Biological, Pedigree, Genetic Variation, Sequence Analysis, DNA, Genetic Predisposition to Disease, Genome-Wide Association Study

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Uncovering the roles of rare variants in common disease through whole-genome sequencing

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