Recent Developments in Genomewide Association Scans: A Workshop Summary and Review

Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing

1995 • 93,704 citations

Statistical significance for genomewide studies

2003 • 9,411 citations

SIFT: predicting amino acid changes that affect protein function

2003 • 5,952 citations

The International HapMap Project

2003 • 5,951 citations

The Future of Genetic Studies of Complex Human Diseases

1996 • 5,355 citations

Complement Factor H Polymorphism in Age-Related Macular Degeneration

2005 • 4,314 citations

Detection of large-scale variation in the human genome

2004 • 2,876 citations

Genome-wide association studies for common diseases and complex traits

2005 • 2,844 citations

Large-Scale Copy Number Polymorphism in the Human Genome

2004 • 2,542 citations

Complement Factor H Polymorphism and Age-Related Macular Degeneration

2005 • 2,387 citations

Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration

2005 • 2,362 citations

The ENCODE (ENCyclopedia Of DNA Elements) Project

2004 • 2,327 citations

Association Mapping in Structured Populations

2000 • 1,990 citations

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

2003 • 1,925 citations

Score Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous

2002 • 1,798 citations

Assessing the Probability That a Positive Report is False: An Approach for Molecular Epidemiology Studies

2004 • 1,720 citations

Ultraconserved Elements in the Human Genome

2004 • 1,691 citations

A Simple Correction for Multiple Testing for Single-Nucleotide Polymorphisms in Linkage Disequilibrium with Each Other

2004 • 1,668 citations

Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium

2004 • 1,608 citations

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

2003 • 1,522 citations

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

1999 • 1,453 citations

Association study designs for complex diseases

2001 • 1,415 citations

Linkage strategies for genetically complex traits. I. Multilocus models.

1990 • 1,335 citations

Are Rare Variants Responsible for Susceptibility to Complex Diseases?

2001 • 1,224 citations

Genetic analysis of genome-wide variation in human gene expression

2004 • 1,219 citations

Population stratification and spurious allelic association

2003 • 1,214 citations

On the allelic spectrum of human disease

2001 • 1,197 citations

Genome-wide association studies: theoretical and practical concerns

2005 • 1,165 citations

Whole-Genome Patterns of Common DNA Variation in Three Human Populations

2005 • 1,161 citations

Transcriptional Maps of 10 Human Chromosomes at 5-Nucleotide Resolution

2005 • 1,152 citations

Candidate-gene approaches for studying complex genetic traits: practical considerations

2002 • 1,071 citations

Variations on a Theme: Cataloging Human DNA Sequence Variation

1997 • 1,064 citations

The health of Hispanics in the southwestern United States: an epidemiologic paradox.

1986 • 1,023 citations

Functional SNPs in the lymphotoxin-α gene that are associated with susceptibility to myocardial infarction

2002 • 942 citations

Genome-wide strategies for detecting multiple loci that influence complex diseases

2005 • 897 citations

Assessing the impact of population stratification on genetic association studies

2004 • 805 citations

Estimating African American Admixture Proportions by Use of Population-Specific Alleles

1998 • 779 citations

The allelic architecture of human disease genes: common disease-common variant... or not?

2002 • 718 citations

Empirical bayes methods and false discovery rates for microarrays

2002 • 679 citations

Testing Association of Statistically Inferred Haplotypes with Discrete and Continuous Traits in Samples of Unrelated Individuals

2002 • 677 citations

Highly Parallel SNP Genotyping

2003 • 643 citations

A genome-wide scalable SNP genotyping assay using microarray technology

2005 • 640 citations

Mapping complex disease loci in whole-genome association studies

2004 • 640 citations

The Future of Association Studies: Gene-Based Analysis and Replication

2004 • 615 citations

Genetic Structure, Self-Identified Race/Ethnicity, and Confounding in Case-Control Association Studies

2005 • 584 citations

DNA Pooling: a tool for large-scale association studies

2002 • 557 citations

Population History and Natural Selection Shape Patterns of Genetic Variation in 132 Genes

2004 • 522 citations

Genomic Control, a New Approach to Genetic-Based Association Studies

2001 • 512 citations

Linkage disequilibrium: what history has to tell us

2002 • 511 citations

Methods for High-Density Admixture Mapping of Disease Genes

2004 • 477 citations

Epidemiological methods for studying genes and environmental factors in complex diseases

2001 • 473 citations

Population Stratification in Epidemiologic Studies of Common Genetic Variants and Cancer: Quantification of Bias

2000 • 445 citations

Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays

2004 • 426 citations

Colon Cancer Family Registry: An International Resource for Studies of the Genetic Epidemiology of Colon Cancer

2007 • 378 citations

The multiethnic cohort study: exploring genes, lifestyle and cancer risk

2004 • 350 citations

Concordance for Hodgkin's Disease in Identical Twins Suggesting Genetic Susceptibility to the Young-Adult Form of the Disease

1995 • 335 citations

Parallel Genotyping of Over 10,000 SNPs Using a One-Primer Assay on a High-Density Oligonucleotide Array

2004 • 325 citations

Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans

2003 • 318 citations

The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer

2004 • 293 citations

Population Structure in Admixed Populations: Effect of Admixture Dynamics on the Pattern of Linkage Disequilibrium

2001 • 274 citations

Ancestral proportions and admixture dynamics in geographically defined African Americans living in South Carolina

2001 • 274 citations

Modeling and E-M Estimation of Haplotype-Specific Relative Risks from Genotype Data for a Case-Control Study of Unrelated Individuals

2003 • 253 citations

Estimation of the Inbreeding Coefficient through Use of Genomic Data

2003 • 247 citations

Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function

2004 • 244 citations

Admixture studies in Latin America: from the 20th to the 21st century.

2000 • 243 citations

Functional variation in LGALS2 confers risk of myocardial infarction and regulates lymphotoxin-α secretion in vitro

2004 • 238 citations

Polygenic inheritance of breast cancer: Implications for design of association studies

2003 • 238 citations

Shaking the tree: mapping complex disease genes with linkage disequilibrium

2005 • 238 citations

Y-Chromosome Evidence for Differing Ancient Demographic Histories in the Americas

2003 • 233 citations

Estimation of admixture and detection of linkage in admixed populations by a Bayesian approach: application to African‐American populations

2000 • 232 citations

The Evolution and Genetics of Latin American Populations

2001 • 227 citations

Asymptotic Bias and Efficiency In Case-Control Studies of Candidate Genes and Gene-Environment Interactions: Basic Family Designs

1999 • 213 citations

Genetic Differentiation in South Amerindians Is Related to Environmental and Cultural Diversity: Evidence from the Y Chromosome

2001 • 206 citations

Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas

2004 • 203 citations

The impact of SNP density on fine-scale patterns of linkage disequilibrium

2004 • 198 citations

“Are We There Yet?”: Deciding When One Has Demonstrated Specific Genetic Causation in Complex Diseases and Quantitative Traits

2003 • 197 citations

Undetected Genotyping Errors Cause Apparent Overtransmission of Common Alleles in the Transmission/Disequilibrium Test

2003 • 172 citations

Pattern of Sequence Variation Across 213 Environmental Response Genes

2004 • 172 citations

False Discovery Rate in Linkage and Association Genome Screens for Complex Disorders

2003 • 169 citations

Genome scans and candidate gene approaches in the study of common diseases and variable drug responses

2003 • 165 citations

A Transmission/Disequilibrium Test That Allows for Genotyping Errors in the Analysis of Single-Nucleotide Polymorphism Data

2001 • 156 citations

Association testing by DNA pooling: An effective initial screen

2002 • 155 citations

Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies

2004 • 154 citations

Optimal two‐stage genotyping in population‐based association studies

2003 • 150 citations

Cancer Statistics for Hispanics, 2003

2003 • 149 citations

On the Identification of Disease Mutations by the Analysis of Haplotype Similarity and Goodness of Fit

2003 • 136 citations

Linkage Disequilibrium Patterns and tagSNP Transferability among European Populations

2005 • 132 citations

Two‐Stage Designs for Gene–Disease Association Studies with Sample Size Constraints

2004 • 124 citations

Finding Haplotype Tagging SNPs by Use of Principal Components Analysis

2004 • 124 citations

Identification of the sources of error in allele frequency estimations from pooled DNA indicates an optimal experimental design.

2002 • 122 citations

Limits of resolution of genetic linkage studies: implications for the positional cloning of human disease genes.

1994 • 121 citations

Identification of the sources of error in allele frequency estimations from pooled DNA indicates an optimal experimental design

2002 • 114 citations

PARSESNP: a tool for the analysis of nucleotide polymorphisms

2003 • 113 citations

Two-Stage Designs for Gene-Disease Association Studies

2002 • 111 citations

An Evolutionary Perspective on Single-Nucleotide Polymorphism Screening in Molecular Cancer Epidemiology

2004 • 107 citations

How Many SNPs Does a Genome-Wide Haplotype Map Require?

2002 • 105 citations

Two‐Stage sampling designs for gene association studies

2004 • 85 citations

Increasing Power for Tests of Genetic Association in the Presence of Phenotype and/or Genotype Error by Use of Double-Sampling

2004 • 78 citations

Novel association approach for determining the genetic predisposition to schizophrenia: Case‐control resource and testing of a candidate gene

1993 • 73 citations

Genetic Diversity in an Andean Population from Peru and Regional Migration Patterns of Amerindians in South America: Data from Y Chromosome and Mitochondrial DNA

2000 • 68 citations

Allowing for Genotyping Error in Analysis of Unmatched Case‐Control Studies

2003 • 61 citations

Genome-wide scan in a large complex pedigree with predominantly male schizophrenics from the island of Kosrae: evidence for linkage to chromosome 2q

2003 • 54 citations

Occupational Chlorophenol Exposure and Soft Tissue Sarcoma Risk among Men Aged 30-60 Years

1998 • 52 citations

Cost-effective analysis of candidate genes using htSNPs: a staged approach

2004 • 51 citations

A Framework for Controlling False Discovery Rates and Minimizing the Amount of Genotyping in the Search for Disease Mutations

2003 • 51 citations

Cohort Studies for Characterizing Measured Genes

1999 • 50 citations

On the statistical analysis of allelic-loss data

1998 • 46 citations

Divergent Human Y-Chromosome Microsatellite Evolution Rates

1999 • 42 citations

Sequence First. Ask Questions Later.

2002 • 41 citations

Genotyping:Mining for SNPs: putting the common variants-common disease hypothesis to the test

2000 • 36 citations

Efficiency of DNA pooling to estimate joint allele frequencies and measure linkage disequilibrium

2001 • 34 citations

DYS19 and DYS199 loci in a Chilean population of mixed ancestry

2004 • 32 citations

The usefulness of different density SNP maps for disease association studies of common variants

2003 • 30 citations

Incorporating Individual Error Rate into Association Test of Unmatched Case-Control Design

2004 • 29 citations

Association mapping of complex diseases in linked regions: estimation of genetic effects and feasibility of testing rare variants

2002 • 24 citations

Study-Design Issues in the Development of the University of Southern California Consortium's Colorectal Cancer Family Registry

1999 • 17 citations

Increased power for case‐control studies of single nucleotide polymorphisms through incorporation of family history and genetic constraints

2004 • 15 citations