Human genetic variation and its contribution to complex traits

Frazer, Kelly A.; Murray, Sarah S.; Schork, Nicholas J.; Topol, Eric J.

doi:10.1038/nrg2554

Cited by 1,073Genetic Associations and EpidemiologyGenomics and Rare DiseasesGenetic Mapping and Diversity in Plants and Animals

Human genetic variation and its contribution to complex traits

Frazer, Kelly A., Murray, Sarah S., Schork, Nicholas J., Topol, Eric J.·2009·Nature Reviews Genetics

DOI 10.1038/nrg2554

Open this paper in CoChat — free account

Abstract

The last few years have seen extensive efforts to catalogue human genetic variation and correlate it with phenotypic differences. Most common SNPs have now been assessed in genome-wide studies for statistical associations with many complex traits, including many important common diseases. Although these studies have provided new biological insights, only a limited amount of the heritable component of any complex trait has been identified and it remains a challenge to elucidate the functional link between associated variants and phenotypic traits. Technological advances, such as the ability to detect rare and structural variants, and a clear understanding of the challenges in linking different types of variation with phenotype, will be essential for future progress.

Integrity signals

Registry

Crossref · 10.1038/nrg2554

Cites

138 of 138 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Many genetic and epigenetic factors, including multiple rare single nucleotide variants, copy number variations, and other structural variation, likely contribute to common complex diseases.
“It is now widely believed that many genetic and epigenetic factors are likely to contribute to common complex diseases, including multiple rare SNVs (defined by convention as those that have frequencies < 1%), copy number variations (CNVs), and other forms of structural variation. 3–12”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [4]
Rare variants likely influence phenotypic expression together with common variants or beyond the effects of common variants.
“Irrespective of how one might define ‘rare variant’ (which, although we have adopted the convention <1% frequency, might range from <0.1% to <0.01% depending on the context13) it is essential to recognize that such variants likely contribute to phenotypic expression in conjunction with, or over-and-above, common variants.”
From Statistical analysis strategies for association studies involving rare variants (2010) · cites this paper as [4]

Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216 · see citing works
The sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909 · see citing works
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works
The Sequence of the Human Genome
Venter, J., Adams, M., Myers, E., Li, P. W., Mural, R., Sutton, G., Smith, H., Yandell, M., Evans, C., Holt, R., et al. (2001) · Science · doi:10.1373/clinchem.2014.237016 · Cited by 6,779 · see citing works
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858 · see citing works
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
The ENCODE Project Consortium (2007) · Nature · doi:10.1038/nature05874 · Cited by 5,223 · see citing works
A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity
Frayling, T. M., Timpson, N. J., Weedon, M. N., Zeggini, E., Freathy, R. M., Lindgren, C. M., Perry, J. R. B., Elliott, K. S., Lango, H., Rayner, N. W., et al. (2007) · Science · doi:10.1126/science.1141634 · Cited by 4,531 · see citing works
Complement factor H polymorphism in age-related macular degeneration
Klein, R. J., Zeiss, C., Chew, E. Y., Tsai, J.-Y., Sackler, R. S., Haynes, C., Henning, A. K., SanGiovanni, J. P., Mane, S. M., Mayne, S. T., et al. (2005) · Science · doi:10.1126/science.1109557 · Cited by 4,492 · see citing works
A second generation human haplotype map of over 3.1 million SNPs
The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438 · see citing works
Global variation in copy number in the human genome
Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,276 · see citing works
Evolutionary Rate at the Molecular Level
KIMURA, M. (1968) · Nature · doi:10.1038/217624a0 · Cited by 3,747 · see citing works
Accurate whole human genome sequencing using reversible terminator chemistry
Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684 · see citing works
The human disease network
Goh, K.-I., Cusick, M. E., Valle, D., Childs, B., Vidal, M., & Barabási, A.-L. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0701361104 · Cited by 3,242 · see citing works
A genome-wide association study identifies novel risk loci for type 2 diabetes
Sladek, R., Rocheleau, G., Rung, J., Dina, C., Shen, L., Serre, D., Boutin, P., Vincent, D., Belisle, A., Hadjadj, S., et al. (2007) · Nature · doi:10.1038/nature05616 · Cited by 2,993 · see citing works
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892 · see citing works
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2344 · Cited by 2,891 · see citing works
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
Saxena, R., Voight, B. F., Lyssenko, V., Burtt, N. P., de Bakker, P. I. W., Chen, H., Roix, J. J., Kathiresan, S., Hirschhorn, J. N., Daly, M. J., et al. (2007) · Science · doi:10.1126/science.1142358 · Cited by 2,843 · see citing works
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
Scott, L. J., Mohlke, K. L., Bonnycastle, L. L., Willer, C. J., Li, Y., Duren, W. L., Erdos, M. R., Stringham, H. M., Chines, P. S., Jackson, A. U., et al. (2007) · Science · doi:10.1126/science.1142382 · Cited by 2,753 · see citing works
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
the NIDDK IBD Genetics Consortium, Barrett, J. C., the Belgian-French IBD Consortium, the Wellcome Trust Case Control Consortium, Hansoul, S., Nicolae, D. L., Cho, J. H., Duerr, R. H., Rioux, J. D., Brant, S. R., et al. (2008) · Nature Genetics · doi:10.1038/ng.175 · Cited by 2,593 · see citing works
Large-scale copy number polymorphism in the human genome
Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557 · see citing works
Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes
Zeggini, E., Weedon, M. N., Lindgren, C. M., Frayling, T. M., Elliott, K. S., Lango, H., Timpson, N. J., Perry, J. R. B., Rayner, N. W., Freathy, R. M., et al. (2007) · Science · doi:10.1126/science.1142364 · Cited by 2,194 · see citing works
Structural variation in the human genome
Feuk, L., Carson, A. R., & Scherer, S. W. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1767 · Cited by 2,051 · see citing works
Genomewide Association Analysis of Coronary Artery Disease
Samani, N. J., Erdmann, J., Hall, A. S., Hengstenberg, C., Mangino, M., Mayer, B., Dixon, R. J., Meitinger, T., Braund, P., Wichmann, H.-E., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa072366 · Cited by 2,044 · see citing works
SLCO1B1 Variants and Statin-Induced Myopathy — A Genomewide Study
(2008) · New England Journal of Medicine · doi:10.1056/nejmoa0801936 · Cited by 2,043 · see citing works
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
Wellcome Trust Case Control Consortium, Zeggini, E., Scott, L. J., Saxena, R., Voight, B. F., Marchini, J. L., Hu, T., de Bakker, P. I., Abecasis, G. R., Almgren, P., et al. (2008) · Nature Genetics · doi:10.1038/ng.120 · Cited by 1,864 · see citing works
The complete genome of an individual by massively parallel DNA sequencing
Wheeler, D. A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.-J., Makhijani, V., Roth, G. T., et al. (2008) · Nature · doi:10.1038/nature06884 · Cited by 1,838 · see citing works
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · see citing works
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800 · see citing works
The Diploid Genome Sequence of an Individual Human
Levy, S., Sutton, G., Ng, P. C., Feuk, L., Halpern, A. L., Walenz, B. P., Axelrod, N., Huang, J., Kirkness, E. F., Denisov, G., et al. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050254 · Cited by 1,778 · see citing works
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis
Rioux, J. D., Xavier, R. J., Taylor, K. D., Silverberg, M. S., Goyette, P., Huett, A., Green, T., Kuballa, P., Barmada, M. M., Datta, L. W., et al. (2007) · Nature Genetics · doi:10.1038/ng2032 · Cited by 1,769 · see citing works
Risk Alleles for Multiple Sclerosis Identified by a Genomewide Study
(2007) · New England Journal of Medicine · doi:10.1056/nejmoa073493 · Cited by 1,746 · see citing works
Large recurrent microdeletions associated with schizophrenia.
GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745 · see citing works
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · see citing works
Linkage disequilibrium--understanding the evolutionary past and mapping the medical future.
Slatkin, M. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2361 · Cited by 1,614 · cited 1× · see citing works
“This correlation structure, or linkage disequilibrium (LD”
Background
A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction
Helgadottir, A., Thorleifsson, G., Manolescu, A., Gretarsdottir, S., Blondal, T., Jonasdottir, A., Jonasdottir, A., Sigurdsson, A., Baker, A., Palsson, A., et al. (2007) · Science · doi:10.1126/science.1142842 · Cited by 1,594 · see citing works
A Common Allele on Chromosome 9 Associated with Coronary Heart Disease
McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A., Roberts, R., Cox, D. R., Hinds, D. A., Pennacchio, L. A., Tybjaerg-Hansen, A., Folsom, A. R., et al. (2007) · Science · doi:10.1126/science.1142447 · Cited by 1,587 · see citing works
Newly identified loci that influence lipid concentrations and risk of coronary artery disease
Willer, C. J., Sanna, S., Jackson, A. U., Scuteri, A., Bonnycastle, L. L., Clarke, R., Heath, S. C., Timpson, N. J., Najjar, S. S., Stringham, H. M., et al. (2008) · Nature Genetics · doi:10.1038/ng.76 · Cited by 1,585 · see citing works
Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium
Carlson, C. S., Eberle, M. A., Rieder, M. J., Qian, Y., Kruglyak, L., & Nickerson, D. A. (2004) · The American Journal of Human Genetics · doi:10.1086/381000 · Cited by 1,578 · see citing works
The Obesity-Associated FTO Gene Encodes a 2-Oxoglutarate-Dependent Nucleic Acid Demethylase
Gerken, T., Girard, C. A. J., Tung, Y. L., Webby, C. J., Saudek, V., Hewitson, K. S., Yeo, G. S. H., McDonough, M. A., Cunliffe, S. L., McNeill, L. A., et al. (2007) · Science · doi:10.1126/science.1151710 · Cited by 1,518 · see citing works
Rare chromosomal deletions and duplications increase risk of schizophrenia
The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475 · see citing works
Genetic Mapping in Human Disease
Altshuler, D., Daly, M. J., & Lander, E. S. (2008) · Science · doi:10.1126/science.1156409 · Cited by 1,452 · see citing works
Common variants at 30 loci contribute to polygenic dyslipidemia
Kathiresan, S., Willer, C. J., Peloso, G. M., Demissie, S., Musunuru, K., Schadt, E. E., Kaplan, L., Bennett, D., Li, Y., Tanaka, T., et al. (2009) · Nature Genetics · doi:10.1038/ng.291 · Cited by 1,364 · see citing works
Recent Segmental Duplications in the Human Genome
Bailey, J. A., Gu, Z., Clark, R. A., Reinert, K., Samonte, R. V., Schwartz, S., Adams, M. D., Myers, E. W., Li, P. W., & Eichler, E. E. (2002) · Science · doi:10.1126/science.1072047 · Cited by 1,355 · see citing works
Replicating genotype–phenotype associations
NCI-NHGRI Working Group on Replication in Association Studies, Chanock, S. J., Manolio, T., Boehnke, M., Boerwinkle, E., Hunter, D. J., Thomas, G., Hirschhorn, J. N., Abecasis, G., Altshuler, D., et al. (2007) · Nature · doi:10.1038/447655a · Cited by 1,352 · see citing works
Whole-Genome Patterns of Common DNA Variation in Three Human Populations
Hinds, D., Stuve, L., Nilsen, G. B., Halperin, E., Eskin, E., Ballinger, D., Frazer, K., & Cox, D. (2005) · Science · doi:10.1126/science.1105436 · Cited by 1,245 · see citing works
Self-citation
Are Rare Variants Responsible for Susceptibility to Complex Diseases?
Pritchard, J. K. (2001) · The American Journal of Human Genetics · doi:10.1086/321272 · Cited by 1,197 · see citing works
On the allelic spectrum of human disease
Reich, D. E., & Lander, E. S. (2001) · Trends in Genetics · doi:10.1016/s0168-9525(01)02410-6 · Cited by 1,185 · see citing works
The New Genomics: Global Views of Biology
Lander, E. S. (1996) · Science · doi:10.1126/science.274.5287.536 · Cited by 1,174 · see citing works
Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome
Korbel, J. O., Urban, A. E., Affourtit, J. P., Godwin, B., Grubert, F., Simons, J. F., Kim, P. M., Palejev, D., Carriero, N. J., Du, L., et al. (2007) · Science · doi:10.1126/science.1149504 · Cited by 1,163 · see citing works
Common and rare variants in multifactorial susceptibility to common diseases
Bodmer, W., & Bonilla, C. (2008) · Nature Genetics · doi:10.1038/ng.f.136 · Cited by 1,131 · see citing works
Mapping and sequencing of structural variation from eight human genomes
Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature · doi:10.1038/nature06862 · Cited by 1,119 · see citing works
Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol
Cohen, J. C., Kiss, R. S., Pertsemlidis, A., Marcel, Y. L., McPherson, R., & Hobbs, H. H. (2004) · Science · doi:10.1126/science.1099870 · Cited by 1,108 · see citing works
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes
Steinthorsdottir, V., Thorleifsson, G., Reynisdottir, I., Benediktsson, R., Jonsdottir, T., Walters, G. B., Styrkarsdottir, U., Gretarsdottir, S., Emilsson, V., Ghosh, S., et al. (2007) · Nature Genetics · doi:10.1038/ng2043 · Cited by 1,072 · see citing works
Fine-scale structural variation of the human genome
Tüzün, E., Sharp, A. J., Bailey, J. A., Kaul, R., Morrison, V., Pertz, L. M., Haugen, E., Hayden, H. S., Albertson, D. G., Pinkel, D., et al. (2005) · Nature Genetics · doi:10.1038/ng1562 · Cited by 991 · see citing works
How to Interpret a Genome-wide Association Study
Pearson, T. A. (2008) · JAMA · doi:10.1001/jama.299.11.1335 · Cited by 964 · see citing works
Integrated detection and population-genetic analysis of SNPs and copy number variation
McCarroll, S. A., Kuruvilla, F. G., Korn, J. M., Cawley, S., Nemesh, J., Wysoker, A., Shapero, M. H., de Bakker, P. I. W., Maller, J. B., Kirby, A., et al. (2008) · Nature Genetics · doi:10.1038/ng.238 · Cited by 936 · see citing works
The diploid genome sequence of an Asian individual
Wang, J., Wang, W., Li, R., Li, Y., Tian, G., Goodman, L., Fan, W., Zhang, J., Li, J., Zhang, J., et al. (2008) · Nature · doi:10.1038/nature07484 · Cited by 924 · see citing works
Variation is the spice of life
Kruglyak, L., & Nickerson, D. A. (2001) · Nature Genetics · doi:10.1038/85776 · Cited by 912 · see citing works
Multiple loci identified in a genome-wide association study of prostate cancer
Thomas, G. D., Jacobs, K. B., Yeager, M., Kraft, P., Wacholder, S., Orr, N., Yu, K. F., Chatterjee, N., Welch, R., Hutchinson, A. A., et al. (2008) · Nature Genetics · doi:10.1038/ng.91 · Cited by 899 · see citing works
Genotype, haplotype and copy-number variation in worldwide human populations
Jakobsson, M., Scholz, S. W., Scheet, P. A., Gibbs, J. R., Canzoniero, J. V., Fung, H., Szpiech, Z. A., Degnan, J. H., Wang, K., Guerreiro, R. J., et al. (2008) · Nature · doi:10.1038/nature06742 · Cited by 871 · see citing works
Mapping complex disease traits with global gene expression
Cookson, W., Liang, L., Abecasis, G., Moffatt, M., & Lathrop, M. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2537 · Cited by 849 · see citing works
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
Aulchenko, Y. S., Janssens, A. C. J. W., Albert Hofman, D., Isaacs, A. J., Sijbrands, E. J. G., Witteman, J. C. M., van Duijn, C. M., Ripatti, S., Lindqvist, I., Perola, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.269 · Cited by 846 · see citing works
A common inversion under selection in Europeans
Stefánsson, H., Helgason, A., Þorleifsson, G., Steinthórsdóttir, V., Másson, G., Barnard, J., Baker, A., Jónasdóttir, Á., Ingason, A., Gudnadottir, V. G., et al. (2005) · Nature Genetics · doi:10.1038/ng1508 · Cited by 830 · see citing works
Genome-wide association analysis identifies 20 loci that influence adult height
Initiative, D. G., Weedon, M. N., The Wellcome Trust Case Control Consortium, Cambridge GEM Consortium, Lango, H., Lindgren, C. M., Wallace, C., Evans, D. M., Mangino, M., Freathy, R. M., et al. (2008) · Nature Genetics · doi:10.1038/ng.121 · Cited by 826 · see citing works
A common variant associated with prostate cancer in European and African populations
Amundadottir, L. T., Sulem, P., Gudmundsson, J., Helgason, A., Baker, A., Agnarsson, B. A., Sigurdsson, A., Benediktsdottir, K. R., Cazier, J.-B., Sainz, J., et al. (2006) · Nature Genetics · doi:10.1038/ng1808 · Cited by 787 · see citing works
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
Korn, J. M., Kuruvilla, F. G., McCarroll, S. A., Wysoker, A., Nemesh, J., Cawley, S., Hubbell, E., Veitch, J., Collins, P. J., Darvishi, K., et al. (2008) · Nature Genetics · doi:10.1038/ng.237 · Cited by 783 · see citing works
Genetic determinants of hair, eye and skin pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.13 · Cited by 750 · see citing works
Variants in MTNR1B influence fasting glucose levels
Prokopenko, I., Langenberg, C., Florez, J. C., Saxena, R., Soranzo, N., Þorleifsson, G., Loos, R. J. F., Manning, A. K., Jackson, A., Aulchenko, Y. S., et al. (2008) · Nature Genetics · doi:10.1038/ng.290 · Cited by 743 · see citing works
Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion
Lyssenko, V., Nagorny, C. L. F., Erdos, M. R., Wierup, N., Jonsson, A., Spégel, P., Bugliani, M., Saxena, R., Fex, M., Pulizzi, N., et al. (2009) · Nature Genetics · doi:10.1038/ng.288 · Cited by 742 · see citing works
Recurrent 16p11.2 microdeletions in autism
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731 · see citing works
The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm
Helgadóttir, A., Þorleifsson, G., Magnússon, K. P., Grétarsdóttir, S., Steinthórsdóttir, V., Manolescu, A. R., Jones, G. T., Rinkel, G. J. E., Blankensteijn, J. D., Ronkainen, A., et al. (2008) · Nature Genetics · doi:10.1038/ng.72 · Cited by 724 · see citing works
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant
Vang, T., Congia, M., Macis, M. D., Musumeci, L., Orrù, V., Zavattari, P., Nika, K., Tautz, L., Taskén, K., Cucca, F., et al. (2005) · Nature Genetics · doi:10.1038/ng1673 · Cited by 724 · see citing works
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes
Gudmundsson, J., Sulem, P., Steinthorsdottir, V., Bergthorsson, J. T., Thorleifsson, G., Manolescu, A., Rafnar, T., Gudbjartsson, D., Agnarsson, B. A., Baker, A., et al. (2007) · Nature Genetics · doi:10.1038/ng2062 · Cited by 723 · see citing works
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
Sabatti, C., Service, S. K., Hartikainen, A., Pouta, A. M., Ripatti, S., Brodsky, J. F., Jones, C. G., Zaitlen, N., Varilo, T., Kaakinen, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.271 · Cited by 721 · see citing works
The allelic architecture of human disease genes: common disease-common variant... or not?
Pritchard, J. K. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.20.2417 · Cited by 711 · see citing works
Common deletion polymorphisms in the human genome
McCarroll, S. A., Hadnott, T. N., Perry, G. H., Sabeti, P. C., Zody, M. C., Barrett, J. C., Dallaire, S., Gabriel, S. B., Lee, C., Daly, M. J., et al. (2006) · Nature Genetics · doi:10.1038/ng1696 · Cited by 701 · see citing works
A Null Mutation in Human APOC3 Confers a Favorable Plasma Lipid Profile and Apparent Cardioprotection
Pollin, T. I., Damcott, C. M., Shen, H., Ott, S. H., Shelton, J., Horenstein, R. B., Post, W., McLenithan, J. C., Bielak, L. F., Peyser, P. A., et al. (2008) · Science · doi:10.1126/science.1161524 · Cited by 688 · see citing works
Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma
Thorleifsson, G., Magnusson, K. P., Sulem, P., Walters, G. B., Gudbjartsson, D. F., Stefansson, H., Jonsson, T., Jonasdottir, A., Jonasdottir, A., Stefansdottir, G., et al. (2007) · Science · doi:10.1126/science.1146554 · Cited by 677 · see citing works
Many sequence variants affecting diversity of adult human height
Gudbjartsson, D. F., Walters, G. B., Þorleifsson, G., Stefánsson, H., Halldórsson, B. V., Zusmanovich, P., Sulem, P., Thorlacius, S., Gylfason, A., Steinberg, S., et al. (2008) · Nature Genetics · doi:10.1038/ng.122 · Cited by 666 · see citing works
A high-resolution survey of deletion polymorphism in the human genome
Conrad, D. F., Andrews, T. D., Carter, N. P., Hurles, M. E., & Pritchard, J. K. (2005) · Nature Genetics · doi:10.1038/ng1697 · Cited by 653 · see citing works
Association Between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Sæmundsen, E., Stefánsson, H., Ferreira, M. A. R., Green, T. J., et al. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000316305.61461.6f · Cited by 647 · see citing works
Population genetics—making sense out of sequence
Chakravarti, A. (1999) · Nature Genetics · doi:10.1038/4482 · Cited by 643 · see citing works
Copy-number variation and association studies of human disease
McCarroll, S. A., & Altshuler, D. M. (2007) · Nature Genetics · doi:10.1038/ng2080 · Cited by 622 · see citing works
Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men
Freedman, M. L., Haiman, C. A., Patterson, N., McDonald, G. J., Tandon, A., Waliszewska, A., Penney, K., Steen, R. G., Ardlie, K., John, E. M., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0605832103 · Cited by 612 · see citing works
A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk
Bouatia-Naji, N., Bonnefond, A., Cavalcanti-Proença, C., Sparsø, T., Holmkvist, J., Marchand, M., Delplanque, J., Lobbens, S., Rocheleau, G., Durand, E., et al. (2009) · Nature Genetics · doi:10.1038/ng.277 · Cited by 611 · see citing works
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration
Maller, J., George, S., Purcell, S., Fagerness, J., Altshuler, D., Daly, M. J., & Seddon, J. M. (2006) · Nature Genetics · doi:10.1038/ng1873 · Cited by 599 · see citing works
Genome–wide association studies provide new insights into type 2 diabetes aetiology
Frayling, T. M. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2178 · Cited by 590 · see citing works
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus
Graham, R., Cotsapas, C. J., Davies, L. R. L., Hackett, R., Lessard, C. J., Leon, J. M., Burtt, N. P., Guiducci, C., Parkin, M., Gates, C., et al. (2008) · Nature Genetics · doi:10.1038/ng.200 · Cited by 588 · see citing works
Identification of ten loci associated with height highlights new biological pathways in human growth
Initiative, T. D. G., Lettre, G., FUSION, KORA, The Prostate, L. C. A. O. C. S. T., Study, T. N. H., SardiNIA, Jackson, A., Gieger, C., Schumacher, F. R., et al. (2008) · Nature Genetics · doi:10.1038/ng.125 · Cited by 583 · see citing works
A Common Allele on Chromosome 9 Associated With Coronary Heart Disease
McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A. F. R., Roberts, R., Cox, D., Hinds, D. A., Pennacchio, L. A., Tybjærg‐Hansen, A., Folsom, A. R., et al. (2007) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000279314.45442.bb · Cited by 524 · see citing works
A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol
Kotowski, I. K., Pertsemlidis, A., Luke, A., Cooper, R. S., Vega, G. L., Cohen, J. C., & Hobbs, H. H. (2006) · The American Journal of Human Genetics · doi:10.1086/500615 · Cited by 517 · see citing works
Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma
Myers, J. S. (2008) · Yearbook of Ophthalmology · doi:10.1016/s0084-392x(08)79151-2 · Cited by 517 · see citing works
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL
Romeo, S., Pennacchio, L. A., Fu, Y., Boerwinkle, E., Tybjaerg-Hansen, A., Hobbs, H. H., & Cohen, J. C. (2007) · Nature Genetics · doi:10.1038/ng1984 · Cited by 511 · see citing works
Evaluating coverage of genome-wide association studies
Barrett, J. C., & Cardon, L. R. (2006) · Nature Genetics · doi:10.1038/ng1801 · Cited by 415 · see citing works
A common variant of HMGA2 is associated with adult and childhood height in the general population
Initiative, T. D. G., Weedon, M. N., Lettre, G., Freathy, R. M., Lindgren, C. M., Voight, B. F., Perry, J. R. B., Elliott, K. S., Hackett, R., Guiducci, C., et al. (2007) · Nature Genetics · doi:10.1038/ng2121 · Cited by 411 · see citing works
Challenges and standards in integrating surveys of structural variation
Scherer, S. W., Lee, C., Birney, E., Altshuler, D., Eichler, E. E., Carter, N. P., Hurles, M. E., & Feuk, L. (2007) · Nature Genetics · doi:10.1038/ng2093 · Cited by 410 · see citing works
Common variants in the GDF5-UQCC region are associated with variation in human height
Sanna, S., Jackson, A., Nagaraja, R., Willer, C. J., Chen, W., Bonnycastle, L. L., Shen, H., Timpson, N. J., Lettre, G., Usala, G., et al. (2008) · Nature Genetics · doi:10.1038/ng.74 · Cited by 391 · see citing works
Common deletions and SNPs are in linkage disequilibrium in the human genome
Hinds, D. A., Kloek, A. P., Jen, M., Chen, X., & Frazer, K. A. (2006) · Nature Genetics · doi:10.1038/ng1695 · Cited by 372 · see citing works
Self-citation
Two newly identified genetic determinants of pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Jakobsdottir, M., Steinberg, S., Gudjonsson, S. A., Palsson, A., Thorleifsson, G., et al. (2008) · Nature Genetics · doi:10.1038/ng.160 · Cited by 368 · see citing works
Progress and challenges in genome-wide association studies in humans
Donnelly, P. (2008) · Nature · doi:10.1038/nature07631 · Cited by 358 · see citing works
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration
Li, M., Atmaca-Sonmez, P., Othman, M., Branham, K. E. H., Khanna, R., Wade, M. S., Li, Y., Liang, L., Zareparsi, S., Swaroop, A., et al. (2006) · Nature Genetics · doi:10.1038/ng1871 · Cited by 354 · see citing works
Near-neutrality in evolution of genes and gene regulation
Ohta, T. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.252626899 · Cited by 333 · see citing works
Chemical characterization of element 112
Eichler, R., Aksenov, N. V., Belozerov, A. V., Bozhikov, G. A., Chepigin, V. I., Dmitriev, S. N., Dressler, R., Gäggeler, H. W., Gorshkov, V. A., Haenssler, F., et al. (2007) · Nature · doi:10.1038/nature05761 · Cited by 332 · see citing works
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
Buch, S., Schafmayer, C., Völzke, H., Becker, C., Franke, A., von Eberstein, H., Kluck, C., Baessmann, I., Brosch, M., Lammert, F., et al. (2007) · Nature Genetics · doi:10.1038/ng2101 · Cited by 332 · see citing works
Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome
Locke, D. P., Sharp, A. J., McCarroll, S. A., McGrath, S. D., Newman, T. L., Cheng, Z., Schwartz, S., Albertson, D. G., Pinkel, D., Altshuler, D., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/505653 · Cited by 317 · see citing works
Autoimmune diseases: insights from genome-wide association studies
Lettre, G., & Rioux, J. D. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn246 · Cited by 317 · see citing works
A Genomewide Association Study of Skin Pigmentation in a South Asian Population
Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522235 · Cited by 315 · see citing works
Genetic Variation in an Individual Human Exome
Ng, P. C., Levy, S., Huang, J., Stockwell, T. B., Walenz, B. P., Li, K., Axelrod, N., Busam, D., Strausberg, R. L., & Venter, J. C. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000160 · Cited by 288 · see citing works
Mutational and selective effects on copy-number variants in the human genome
Cooper, G. M., Nickerson, D. A., & Eichler, E. E. (2007) · Nature Genetics · doi:10.1038/ng2054 · Cited by 280 · see citing works
Evaluating and improving power in whole-genome association studies using fixed marker sets
Pe’er, I., de Bakker, P. I. W., Maller, J., Yelensky, R., Altshuler, D., & Daly, M. J. (2006) · Nature Genetics · doi:10.1038/ng1816 · Cited by 275 · see citing works
The road to genome-wide association studies
Kruglyak, L. (2008) · Nature reviews genetics · doi:10.1038/nrg2316 · Cited by 266 · see citing works
Genetic architecture of complex traits: Large phenotypic effects and pervasive epistasis
Shao, H., Burrage, L. C., Sinasac, D. S., Hill, A. E., Ernest, S. R., O’Brien, W. E., Courtland, H., Jepsen, K. J., Kirby, A. W., Kulbokas, E. J., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0810388105 · Cited by 256 · see citing works
Systematic assessment of copy number variant detection via genome-wide SNP genotyping
Cooper, G. M., Zerr, T., Kidd, J. M., Eichler, E. E., & Nickerson, D. A. (2008) · Nature Genetics · doi:10.1038/ng.236 · Cited by 231 · see citing works
The population genetics of structural variation
Conrad, D. F., & Hurles, M. E. (2007) · Nature Genetics · doi:10.1038/ng2042 · Cited by 222 · see citing works
Completing the map of human genetic variation
The Human Genome Structural Variation Working Group, Eichler, E. E., Nickerson, D. A., Altshuler, D., Bowcock, A. M., Brooks, L., Carter, N. P., Church, D. M., Felsenfeld, A. L., Guyer, M. S., et al. (2007) · Nature · doi:10.1038/447161a · Cited by 211 · see citing works
Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas
Fearnhead, N. S., Wilding, J. L., WINNEY, B. J., Tonks, S., Bartlett, S., Bicknell, D., Tomlinson, I. P. M., Mortensen, N. J. M., & Bodmer, W. F. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0407187101 · Cited by 196 · see citing works
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis
Aulchenko, Y. S., Hoppenbrouwers, I. A., Ramagopalan, S. V., Broer, L., Jafari, N., Hillert, J. A., Link, J., Lundström, W., Greiner, E., Sadovnick, A. D., et al. (2008) · Nature Genetics · doi:10.1038/ng.251 · Cited by 194 · see citing works
Genetic variation in laboratory mice
Wade, C. M., & Daly, M. J. (2005) · Nature Genetics · doi:10.1038/ng1666 · Cited by 188 · see citing works
A robust statistical method for case-control association testing with copy number variation
Barnes, C. P., Plagnol, V., Fitzgerald, T. W., Redon, R., Marchini, J., Clayton, D. G., & Hurles, M. E. (2008) · Nature Genetics · doi:10.1038/ng.206 · Cited by 176 · see citing works
Genome assembly comparison identifies structural variants in the human genome
Khaja, R., Zhang, J., MacDonald, J. R., He, Y., Joseph‐George, A. M., Wei, J., Rafiq, M., Qian, C., Shago, M., Pantano, L., et al. (2006) · Nature Genetics · doi:10.1038/ng1921 · Cited by 166 · see citing works
Guilt beyond a reasonable doubt
Altshuler, D., & Daly, M. (2007) · Nature Genetics · doi:10.1038/ng0707-813 · Cited by 151 · see citing works
What Can Genome-Wide Association Studies Tell Us about the Genetics of Common Disease?
Iles, M. M. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.0040033 · Cited by 144 · see citing works
Genome-wide association studies: a new window into immune-mediated diseases
Xavier, R. J., & Rioux, J. D. (2008) · Nature reviews. Immunology · doi:10.1038/nri2361 · Cited by 139 · see citing works
Reaching new heights: insights into the genetics of human stature
Weedon, M. N., & Frayling, T. M. (2008) · Trends in Genetics · doi:10.1016/j.tig.2008.09.006 · Cited by 139 · see citing works
Male-pattern baldness susceptibility locus at 20p11
Richards, J. B., Yuan, X., Geller, F., Waterworth, D. M., Bataille, V. A., Glass, D., Song, K. S., Waeber, G., Vollenweider, P., Aben, K. K. H., et al. (2008) · Nature Genetics · doi:10.1038/ng.255 · Cited by 138 · see citing works
Worldwide population differentiation at disease-associated SNPs
Myles, S., Davison, D., Barrett, J. C., Stoneking, M., & Timpson, N. J. (2008) · BMC Medical Genomics · doi:10.1186/1755-8794-1-22 · Cited by 134 · see citing works
Major changes in our DNA lead to major changes in our thinking
Sebat, J. L. (2007) · Nature Genetics · doi:10.1038/ng2095 · Cited by 118 · see citing works
Taking stock of complex trait genetics in mice
Frankel, W. N. (1995) · Trends in Genetics · doi:10.1016/s0168-9525(00)89155-6 · Cited by 115 · see citing works
Widening the spectrum of human genetic variation
Eichler, E. E. (2006) · Nature Genetics · doi:10.1038/ng0106-9 · Cited by 101 · see citing works
Power to Detect Risk Alleles Using Genome-Wide Tag SNP Panels
Eberle, M. A., Ng, P. C., Kuhn, K. M., Zhou, L., Peiffer, D. A., Galver, L., Viaud‐Martinez, K. A., Lawley, C., Gunderson, K. L., Shen, R., et al. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030170 · Cited by 95 · see citing works
Self-citation
Mouse models of human genetic disease: Which mouse is more like a man?
Erickson, R. P. (1996) · BioEssays · doi:10.1002/bies.950181209 · Cited by 94 · see citing works
The prevalence of folate-remedial MTHFR enzyme variants in humans
Marini, N. J., Gin, J. W., Ziegle, J. S., Keho, K. H., Ginzinger, D. G., Gilbert, D. A., & Rine, J. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0802813105 · Cited by 86 · see citing works
The influence of genetic background on spontaneous and genetically engineered mouse models of complex diseases.
Linder, C. C. (2001) · PubMed · Cited by 80 · see citing works
Rare Variant Hypothesis for Multifactorial Inheritance: Susceptibility to Colorectal Adenomas as a Model
Fearnhead, N. S., WINNEY, B. J., & Bodmer, W. F. (2005) · Cell Cycle · doi:10.4161/cc.4.4.1591 · Cited by 54 · see citing works
HapMap tagSNP transferability in multiple populations: General guidelines
Xing, J., Witherspoon, D. J., Watkins, W. S., et al. (2008) · Genomics · doi:10.1016/j.ygeno.2008.03.011 · Cited by 30 · see citing works
Conjuring SNPs to detect associations
Clark, A. G., & Li, J. (2007) · Nature Genetics · doi:10.1038/ng0707-815 · Cited by 24 · see citing works
National Human Genome Research Institute
(2000) · Choice Reviews Online · doi:10.5860/choice.37sup-252 · Cited by 12 · see citing works
Dissection of Complex Genetic Disease
Bayat, A., Barton, A. C., & Ollier, W. (2004) · Clinical Orthopaedics and Related Research · doi:10.1097/00003086-200402000-00046 · Cited by 6 · see citing works

Flagged first, then by citations

Sorted by citations

Sequencing technologies – the next generation
Metzker, M. L. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2626 · Cited by 7,066 · see citing works
Common SNPs explain a large proportion of the heritability for human height
Yang, J., Benyamin, B., McEvoy, B. P., Gordon, S., Henders, A. K., Nyholt, D. R., Madden, P. A., Heath, A. C., Martin, N. G., Montgomery, G. W., et al. (2010) · Nature Genetics · doi:10.1038/ng.608 · Cited by 4,446 · see citing works
Human Genetics Shape the Gut Microbiome
Goodrich, J. K., Waters, J. L., Poole, A. C., Sutter, J. L., Koren, O., Blekhman, R., Beaumont, M., Van Treuren, W., Knight, R., Bell, J. T., et al. (2014) · Cell · doi:10.1016/j.cell.2014.09.053 · Cited by 3,164 · see citing works
Targeted capture and massively parallel sequencing of 12 human exomes
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030 · see citing works
Pooled Association Tests for Rare Variants in Exon-Resequencing Studies
Price, A. L., Kryukov, G. V., de Bakker, P. I. W., Purcell, S. M., Staples, J., Wei, L.-J., & Sunyaev, S. R. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.005 · Cited by 755 · see citing works
An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level
Bauer, D. E., Kamran, S. C., Lessard, S., Xu, J., Fujiwara, Y., Lin, C., Shao, Z., Canver, M. C., Smith, E. C., Pinello, L., et al. (2013) · Science · doi:10.1126/science.1242088 · Cited by 653 · see citing works
The impact of next-generation sequencing on genomics
Zhang, J., Chiodini, R., Badr, A., & Zhang, G. (2011) · Journal of Genetics and Genomics · doi:10.1016/j.jgg.2011.02.003 · Cited by 577 · see citing works
“Such rare variants may have a large effect as genetic risk factors for complex genetic diseases (Frazer et al., 2009; Manolio et al., 2009; Schork et al., 2009; Tsuji, 2010).”
Background
Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
Keinan, A., & Clark, A. G. (2012) · Science · doi:10.1126/science.1217283 · Cited by 548 · see citing works
Enhancer-promoter interactions are encoded by complex genomic signatures on looping chromatin
Whalen, S., Truty, R. M., & Pollard, K. S. (2016) · Nature Genetics · doi:10.1038/ng.3539 · Cited by 456 · see citing works
Genetic architecture: the shape of the genetic contribution to human traits and disease
Timpson, N. J., Greenwood, C. M. T., Soranzo, N., Lawson, D. J., & Richards, J. B. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.101 · Cited by 434 · see citing works
Microdroplet-based PCR enrichment for large-scale targeted sequencing
Tewhey, R., Warner, J. B., Nakano, M., Libby, B., Medkova, M., David, P. H., Kotsopoulos, S. K., Samuels, M. L., Hutchison, J. B., Larson, J. W., et al. (2009) · Nature Biotechnology · doi:10.1038/nbt.1583 · Cited by 454 · see citing works
“Although the majority of single-nucleotide polymorphisms (SNPs) shared among all populations have been discovere”
BackgroundSelf-citation
Statistical analysis strategies for association studies involving rare variants
Bansal, V., Libiger, O., Torkamani, A., & Schork, N. J. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2867 · Cited by 455 · see citing works
Self-citation
Using molecular classification to predict gains in maximal aerobic capacity following endurance exercise training in humans
Timmons, J. A., Knudsen, S., Rankinen, T., Koch, L. G., Sarzynski, M., Jensen, T., Keller, P., Scheele, C., Vollaard, N. B. J., Nielsen, S., et al. (2010) · Journal of Applied Physiology · doi:10.1152/japplphysiol.01295.2009 · Cited by 358 · see citing works
An agenda for personalized medicine
Ng, P. C., Murray, S. S., Levy, S., & Venter, J. C. (2009) · Nature · doi:10.1038/461724a · Cited by 330 · see citing works
Self-citation
Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification
Dapas, M., & Dunaif, A. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnac001 · Cited by 300 · see citing works
Intrinsic and Extrinsic Factors Impacting Absorption, Metabolism, and Health Effects of Dietary Carotenoids
Moran, N. E., Mohn, E. S., Hason, N., Erdman, J. W., & Johnson, E. J. (2018) · Advances in Nutrition · doi:10.1093/advances/nmy025 · Cited by 205 · see citing works
Association screening of common and rare genetic variants by penalized regression
Zhou, H., Sehl, M. E., Sinsheimer, J. S., & Lange, K. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq448 · Cited by 137 · see citing works
Diseases 2.0: a weekly updated database of disease–gene associations from text mining and data integration
Grissa, D., Junge, A., Oprea, T. I., & Jensen, L. J. (2022) · Database · doi:10.1093/database/baac019 · Cited by 144 · see citing works
Toward developmental models of psychiatric disorders in zebrafish
Norton, W. H. J. (2013) · Frontiers in Neural Circuits · doi:10.3389/fncir.2013.00079 · Cited by 127 · see citing works
Genomewide Association Analysis of Symptoms of Alcohol Dependence in the Molecular Genetics of Schizophrenia (MGS2) Control Sample: SYMPTOMS OF AD IN THE MGS2 CONTROL SAMPLE
Kendler, K. S., Kalsi, G., Holmans, P. A., Sanders, A. R., Aggen, S. H., Dick, D. M., Aliev, F., Shi, J., Levinson, D. F., & Gejman, P. V. (2011) · Alcoholism: Clinical and Experimental Research · doi:10.1111/j.1530-0277.2010.01427.x · Cited by 121 · see citing works
Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men
Baik, I., Cho, N. H., Kim, S. H., Han, B.-G., & Shin, C. (2011) · The American Journal of Clinical Nutrition · doi:10.3945/ajcn.110.001776 · Cited by 119 · see citing works
Oxidative stress and genetic markers of suboptimal antioxidant defense in the aging brain: A theoretical review
Salminen, L. E., & Paul, R. H. (2014) · Reviews in the Neurosciences · doi:10.1515/revneuro-2014-0046 · Cited by 113 · see citing works
Genetic Link Between Obesity and MMP14-Dependent Adipogenic Collagen Turnover
Chun, T.-H., Inoue, M., Morisaki, H., Yamanaka, I., Miyamoto, Y., Okamura, T., Sato-Kusubata, K., & Weiss, S. J. (2010) · Diabetes · doi:10.2337/db10-0073 · Cited by 97 · see citing works
Genetics of age-related macular degeneration: current concepts, future directions
DeAngelis, M. M., Silveira, A. C., Carr, E. A., & Kim, I. K. (2011) · Seminars in Ophthalmology · doi:10.3109/08820538.2011.577129 · Cited by 94 · see citing works
ContIG: Self-supervised Multimodal Contrastive Learning for Medical Imaging with Genetics
Taleb, A., Kirchler, M., Monti, R., & Lippert, C. (2022) · 2022 IEEE/CVF Conference on Computer Vision and Pattern Recognition (CVPR) · doi:10.1109/cvpr52688.2022.02024 · Cited by 83 · see citing works
Genome-wide association studies and the genetic dissection of complex traits
Sebastiani, P., Timofeev, N., Dworkis, D. A., Perls, T. T., & Steinberg, M. H. (2009) · American Journal of Hematology · doi:10.1002/ajh.21440 · Cited by 67 · see citing works
Synthetic associations in the context of genome-wide association scan signals
Orozco, G., Barrett, J. C., & Zeggini, E. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq368 · Cited by 61 · see citing works
The Collapse
Topol, E. J., & Damani, S. B. (2010) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2010.06.023 · Cited by 18 · see citing works
Self-citation
Allelic Variation Within the Putative Autism Spectrum Disorder Risk Gene <scp>H</scp> omeobox <scp>A</scp> 1 and Cerebellar Maturation in Typically Developing Children and Adolescents
Raznahan, A., Lee, Y., Vaituzis, C., Tran, L., Mackie, S., Tiemeier, H., Clasen, L., Lalonde, F., Greenstein, D., Pierson, R., et al. (2012) · Autism Research · doi:10.1002/aur.238 · Cited by 12 · see citing works

Authors: Frazer, K. A., Murray, S. S., Schork, N. J., & Topol, E. J.
Affiliations: Scripps Research Institute (US)
Corresponding author: Frazer, Kelly A.
ORCID: Frazer, Kelly A.
Murray, Sarah S.
Schork, Nicholas J.
Topol, Eric J.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2009-04
Volume: 10
Issue: 4
Pages: 241-251
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg2554
OpenAlex: W2046247026
Cited by: 1,073
References: 138
Citations by year: 2026: 13 · 2025: 17 · 2024: 31 · 2023: 38 · 2022: 32 · 2021: 45 · 2020: 46 · 2019: 46 · 2018: 54 · 2017: 56 · 2016: 52 · 2015: 80 · 2014: 74 · 2013: 80 · 2012: 104
FWCI: 12.85
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health
National Center for Research Resources (1U54RR025204-01, UL1RR025774)
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: human genetic variation, complex traits, single nucleotide polymorphisms, rare variants, copy number variation, structural variants, heritability, genetic association studies, disease genetics
MeSH terms: Base Sequence, Genotype, Humans, Molecular Sequence Data, Phenotype, Genetic Variation, Linkage Disequilibrium, Genome, Human, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Human genetic variation and its contribution to complex traits

Abstract

Integrity signals

Claims the paper makes

Claims other papers make about this one

Cites

Cited by

Related

Record

About these checks