Integrating common and rare genetic variation in diverse human populations

Initial sequencing and analysis of the human genome

2001 • 23,520 citations

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

2007 • 9,332 citations

Finding the missing heritability of complex diseases

2009 • 8,030 citations

A haplotype map of the human genome

2005 • 5,856 citations

A second generation human haplotype map of over 3.1 million SNPs

2007 • 4,436 citations

Global variation in copy number in the human genome

2006 • 4,228 citations

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

2001 • 2,948 citations

Origins and functional impact of copy number variation in the human genome

2009 • 1,912 citations

Positive Natural Selection in the Human Lineage

2006 • 1,154 citations

SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and Humans

2005 • 997 citations

Integrated detection and population-genetic analysis of SNPs and copy number variation

2008 • 941 citations

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

2008 • 791 citations

African Genetic Diversity: Implications for Human Demographic History, Modern Human Origins, and Complex Disease Mapping

2008 • 747 citations

Signals of recent positive selection in a worldwide sample of human populations

2009 • 734 citations

A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

2007 • 662 citations

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

2007 • 604 citations

A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection

2010 • 500 citations

Constructing genomic maps of positive selection in humans: Where do we go from here?

2009 • 442 citations

Progress and challenges in genome-wide association studies in humans

2008 • 359 citations

Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans

2007 • 284 citations

Genomic regions exhibiting positive selection identified from dense genotype data

2005 • 263 citations

A genotype calling algorithm for the Illumina BeadArray platform

2007 • 225 citations

A robust statistical method for case-control association testing with copy number variation

2008 • 182 citations

A Genome Scan for Positive Selection in Thoroughbred Horses

2009 • 140 citations

SNPdetector: A Software Tool for Sensitive and Accurate SNP Detection

2005 • 131 citations

Biases and Reconciliation in Estimates of Linkage Disequilibrium in the Human Genome

2006 • 42 citations