A Data-Adaptive Sum Test for Disease Association with Multiple Common or Rare Variants

Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities

Faith, M. S., Carnell, S., & Kral, T. V. E. (2013) · Human Heredity · doi:10.1159/000353879 · Cited by 7,628 · see citing works

The Structure of Haplotype Blocks in the Human Genome

Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science · doi:10.1126/science.1069424 · Cited by 5,863 · see citing works

An Approximate Distribution of Estimates of Variance Components

Satterthwaite, F. E. (1946) · Biometrics Bulletin · doi:10.2307/3002019 · Cited by 4,373 · 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

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

The Type 1 Diabetes Genetics Consortium, Barrett, J. C., Clayton, D. G., Concannon, P., Akolkar, B., Cooper, J. D., Erlich, H. A., Julier, C., Morahan, G., Nerup, J., et al. (2009) · Nature Genetics · doi:10.1038/ng.381 · Cited by 1,746 · see citing works

Personal genomes: The case of the missing heritability

Maher, B. (2008) · Nature · doi:10.1038/456018a · Cited by 1,737 · see citing works

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

the GIANT Consortium (2009) · Nature Genetics · doi:10.1038/ng.287 · Cited by 1,720 · see citing works

High-resolution haplotype structure in the human genome

Daly, M. J., Rioux, J. D., Schaffner, S. F., Hudson, T. J., & Lander, E. S. (2001) · Nature Genetics · doi:10.1038/ng1001-229 · Cited by 1,717 · see citing works

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

Li, B., & Leal, S. M. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.06.024 · Cited by 1,527 · see citing works

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

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

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

Madsen, B. E., & Browning, S. R. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000384 · Cited by 1,113 · 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

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Ji, W., Foo, J. N., O'Roak, B. J., Zhao, H., Larson, M. G., Simon, D. B., Newton-Cheh, C., State, M. W., Levy, D., & Lifton, R. P. (2008) · Nature Genetics · doi:10.1038/ng.118 · Cited by 812 · 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 vs. rare allele hypotheses for complex diseases

Schork, N. J., Murray, S. S., Frazer, K. A., & Topol, E. J. (2009) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2009.04.010 · Cited by 649 · 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

A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST)

Morgenthaler, S., & Thilly, W. G. (2007) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2006.09.003 · Cited by 507 · cited 4× · see citing works

So Many Correlated Tests, So Little Time! Rapid Adjustment of P Values for Multiple Correlated Tests

Conneely, K. N., & Boehnke, M. (2007) · The American Journal of Human Genetics · doi:10.1086/522036 · Cited by 446 · see citing works

Genetic architecture of quantitative traits in mice, flies, and humansPreprint

Jonathan Flint, C., & Mackay, T. F. C. (2009) · Genome Research · doi:10.1101/gr.086660.108 · Cited by 404 · see citing works

Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms

Gorlov, I. P., Gorlova, O. Y., Sunyaev, S. R., Spitz, M. R., & Amos, C. I. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.006 · Cited by 338 · see citing works

Asymptotic tests of association with multiple SNPs in linkage disequilibrium

Pan, W. (2009) · Genetic Epidemiology · doi:10.1002/gepi.20402 · Cited by 238 · see citing works

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

Schymick, J. C., Scholz, S. W., Fung, H., Britton, A. F., Arepalli, S., Gibbs, J. R., Lombardo, F., Matarín, M., Kasperavičiūtė, D., Hernandez, D. G., et al. (2007) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70037-6 · Cited by 218 · see citing works

Use of unphased multilocus genotype data in indirect association studies

Clayton, D., Chapman, J., & Cooper, J. (2004) · Genetic Epidemiology · doi:10.1002/gepi.20032 · Cited by 186 · see citing works

A Course in Theortical Statistics.

Blackmor, R. W., & Rahman, N. A. (1970) · Journal of the Royal Statistical Society Series D (The Statistician) · doi:10.2307/2987374 · Cited by 153 · see citing works

The Type 1 Diabetes Genetics Consortium

Rich, S. S., CONCANNON, P. J., ERLICH, H., Julier, C., Morahan, G., Nerup, J., Pociot, F., & Todd, J. A. (2006) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1375.001 · Cited by 149 · see citing works

Generalized T2 Test for Genome Association Studies

Xiong, M., Zhao, J., & Boerwinkle, E. (2002) · The American Journal of Human Genetics · doi:10.1086/340392 · Cited by 124 · see citing works

Improved Power by Use of a Weighted Score Test for Linkage Disequilibrium Mapping

Wang, T., & Elston, R. C. (2007) · The American Journal of Human Genetics · doi:10.1086/511312 · Cited by 117 · see citing works

Both Rare and Common Polymorphisms Contribute Functional Variation at CHGA, a Regulator of Catecholamine Physiology

Wen, G., Mahata, S. K., Cadman, P. E., Mahata, M., Ghosh, S., Mahapatra, N. R., Rao, F., Stridsberg, M., Smith, D. W., Mahboubi, P., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/381399 · Cited by 107 · see citing works

Analysis of single‐locus tests to detect gene/disease associations

Roeder, K., Bacanu, S., Sonpar, V. A., Zhang, X. D., & Devlin, B. (2005) · Genetic Epidemiology · doi:10.1002/gepi.20050 · Cited by 97 · see citing works

Analysis of multiple SNPs in a candidate gene or region

Chapman, J. M., & Whittaker, J. C. (2008) · Genetic Epidemiology · doi:10.1002/gepi.20330 · Cited by 96 · see citing works

Multiple Rare Nonsynonymous Variants in the Adenomatous Polyposis Coli Gene Predispose to Colorectal Adenomas

Azzopardi, D., Dallosso, A. R., Eliason, K., Hendrickson, B. C., Jones, N., Rawstorne, E., Colley, J. P., Moskvina, V., FRYE, C. A., Sampson, J. R., et al. (2008) · Cancer Research · doi:10.1158/0008-5472.can-07-5733 · Cited by 85 · see citing works

Genome Association Studies of Complex Diseases by Case-Control Designs

Fan, R., & Knapp, M. (2003) · The American Journal of Human Genetics · doi:10.1086/373966 · Cited by 80 · see citing works

Sequencing the IL4 locus in African Americans implicates rare noncoding variants in asthma susceptibility

Haller, G., Torgerson, D. G., Ober, C., & Thompson, E. E. (2009) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2009.09.013 · Cited by 46 · see citing works

Gains in power for exhaustive analyses of haplotypes using variable-sized sliding window strategy: a comparison of association-mapping strategies

Guo, Y.-F., Li, J., Bonham, A. J., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.244 · Cited by 36 · see citing works

U‐Statistics‐based Tests for Multiple Genes in Genetic Association Studies

Wei, Z., Li, M., Rebbeck, T. R., & Li, H. (2008) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2008.00473.x · Cited by 35 · see citing works

Exploring the unknown: assumptions about allelic architecture and strategies for susceptibility variant discovery

McCarthy, M. I. (2009) · Genome Medicine · doi:10.1186/gm66 · Cited by 24 · see citing works

Test Selection with Application to Detecting Disease Association with Multiple SNPs

Pan, W., Fang, H., & Shen, X. (2009) · Human Heredity · doi:10.1159/000264449 · Cited by 20 · see citing works

Challenges of Big Data analysis

Fan, J., Han, F., & Liu, H. (2014) · National Science Review · doi:10.1093/nsr/nwt032 · Cited by 1,482 · see citing works

Rare-Variant Association Analysis: Study Designs and Statistical Tests

Lee, S., Abecasis, G. R., Boehnke, M., & Lin, X. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.06.009 · Cited by 1,042 · see citing works

Meta-analysis methods for genome-wide association studies and beyond

Evangelou, E., & Ioannidis, J. P. A. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3472 · Cited by 596 · see citing works

Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants

Ionita-Laza, I., Lee, S., Makarov, V., Buxbaum, J. D., & Lin, X. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.04.015 · Cited by 433 · see citing works

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

Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets

Ionita-Laza, I., Makarov, V., & Buxbaum, J. D. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.04.010 · Cited by 57 · see citing works

Distance-based analysis of variance for brain connectivity

Shinohara, R. T., Shou, H., Carone, M., Schultz, R., Tunc, B., Parker, D., Martin, M. L., & Verma, R. (2020) · Biometrics · doi:10.1111/biom.13123 · Cited by 6 · see citing works

Linkage disequilibrium and whole‐genome association studies

Novik, K. L., & Brooks-Wilson, A. R. (2005) · Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics · doi:10.1002/047001153x.g202305

Linkage Disequilibrium and Association Analysis

Martin, E. R. (2005) · doi:10.1002/9780471781141.ch12 · Cited by 7 · see citing works

Comparing linkage and association analyses in sheep points to a better way of doing GWAS

Kemper, K. E., Daetwyler, H. D., Visscher, P. M., & Goddard, M. E. (2012) · Genetics Research · doi:10.1017/s0016672312000365 · Cited by 23 · see citing works

Linkage Disequilibrium and Association Analysis

Martin, E. R., & Chung, R. (2021) · doi:10.1002/9781119104100.ch8 · Cited by 3 · see citing works

Linkage Disequilibrium: Ancient History Drives the New Genetics

Abecasis, G. R., Ghosh, D., & Nichols, T. E. (2005) · Human Heredity · doi:10.1159/000085226 · Cited by 48 · see citing works