The International HapMap Project.

A haplotype map of the human genome. Nature (2005) 105.70

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51

Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20

A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39

ABySS: a parallel assembler for short read sequence data. Genome Res (2009) 43.20

Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10

KEGG for representation and analysis of molecular networks involving diseases and drugs. Nucleic Acids Res (2009) 28.60

Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genet (2008) 20.38

A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet (2009) 19.64

A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet (2005) 18.98

Genotype imputation. Annu Rev Genomics Hum Genet (2009) 18.64

A HapMap harvest of insights into the genetics of common disease. J Clin Invest (2008) 18.31

Genome-wide associations of gene expression variation in humans. PLoS Genet (2005) 17.27

Mapping determinants of human gene expression by regional and genome-wide association. Nature (2005) 17.24

The UCSC genome browser database: update 2007. Nucleic Acids Res (2006) 13.04

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. N Engl J Med (2007) 12.24

Tackling the widespread and critical impact of batch effects in high-throughput data. Nat Rev Genet (2010) 11.82

Ensembl 2006. Nucleic Acids Res (2006) 11.66

An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res (2006) 11.60

Widespread RNA and DNA sequence differences in the human transcriptome. Science (2011) 11.45

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet (2012) 11.29

Towards a knowledge-based Human Protein Atlas. Nat Biotechnol (2010) 11.05

A high-density admixture map for disease gene discovery in african americans. Am J Hum Genet (2004) 10.87

Quality scores and SNP detection in sequencing-by-synthesis systems. Genome Res (2008) 10.49

Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34

The UCSC Genome Browser Database: update 2009. Nucleic Acids Res (2008) 10.31

SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput Biol (2005) 10.04

Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet (2010) 9.53

Ensembl 2015. Nucleic Acids Res (2014) 8.30

MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med (2006) 7.95

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet (2006) 7.70

Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64

Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet (2008) 7.36

Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet (2013) 7.13

In silico method for inferring genotypes in pedigrees. Nat Genet (2006) 7.08

Activating mutations in ALK provide a therapeutic target in neuroblastoma. Nature (2008) 6.80

Whole-genome association study of bipolar disorder. Mol Psychiatry (2008) 6.80

Recent human effective population size estimated from linkage disequilibrium. Genome Res (2007) 6.79

Genomic scans for selective sweeps using SNP data. Genome Res (2005) 6.43

Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res (2009) 6.42

Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay. Genome Res (2005) 6.32

A variant upstream of IFNL3 (IL28B) creating a new interferon gene IFNL4 is associated with impaired clearance of hepatitis C virus. Nat Genet (2013) 6.19

Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers. Am J Hum Genet (2005) 6.12

A fine-scale linkage-disequilibrium measure based on length of haplotype sharing. Am J Hum Genet (2006) 6.02

SCAN: SNP and copy number annotation. Bioinformatics (2009) 5.96

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet (2009) 5.65

A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am J Hum Genet (2009) 5.62

A decade's perspective on DNA sequencing technology. Nature (2011) 5.61

FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Res (2006) 5.60

F-SNP: computationally predicted functional SNPs for disease association studies. Nucleic Acids Res (2007) 5.34

Runs of homozygosity in European populations. Am J Hum Genet (2008) 5.34

Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes. Proc Natl Acad Sci U S A (2005) 5.21

Integrating ethics and science in the International HapMap Project. Nat Rev Genet (2004) 5.13

A SNP in a let-7 microRNA complementary site in the KRAS 3' untranslated region increases non-small cell lung cancer risk. Cancer Res (2008) 5.05

Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Am J Psychiatry (2009) 4.74

A genomewide admixture map for Latino populations. Am J Hum Genet (2007) 4.71

Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nat Genet (2009) 4.56

SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res (2012) 4.45

Linkage disequilibrium mapping via cladistic analysis of single-nucleotide polymorphism haplotypes. Am J Hum Genet (2004) 4.44

Powerful multilocus tests of genetic association in the presence of gene-gene and gene-environment interactions. Am J Hum Genet (2006) 4.40

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38

Natural genetic variation caused by transposable elements in humans. Genetics (2004) 4.33

A novel, high-performance random array platform for quantitative gene expression profiling. Genome Res (2004) 4.32

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res (2009) 4.32

CYP4F2 genetic variant alters required warfarin dose. Blood (2008) 4.23

Efficient computation of significance levels for multiple associations in large studies of correlated data, including genomewide association studies. Am J Hum Genet (2004) 4.15

Genetics of human gene expression: mapping DNA variants that influence gene expression. Nat Rev Genet (2009) 4.05

Evaluation of genetic variation contributing to differences in gene expression between populations. Am J Hum Genet (2008) 4.01

Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet (2010) 3.97

A framework for oligonucleotide microarray preprocessing. Bioinformatics (2010) 3.97

Pattern of sequence variation across 213 environmental response genes. Genome Res (2004) 3.93

HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res (2009) 3.86

The genomic and transcriptomic landscape of a HeLa cell line. G3 (Bethesda) (2013) 3.82

Progress and promise of genome-wide association studies for human complex trait genetics. Genetics (2010) 3.81

Human genome sequencing in health and disease. Annu Rev Med (2012) 3.76

Removing technical variability in RNA-seq data using conditional quantile normalization. Biostatistics (2012) 3.74

Sequence features in regions of weak and strong linkage disequilibrium. Genome Res (2005) 3.74

Data quality control in genetic case-control association studies. Nat Protoc (2010) 3.68

Accurate discovery of expression quantitative trait loci under confounding from spurious and genuine regulatory hotspots. Genetics (2008) 3.66

Joint modeling of linkage and association: identifying SNPs responsible for a linkage signal. Am J Hum Genet (2005) 3.62

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol (2010) 3.61

Mobile interspersed repeats are major structural variants in the human genome. Cell (2010) 3.60

Candidate gene studies of ADHD: a meta-analytic review. Hum Genet (2009) 3.56

Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. Am J Hum Genet (2009) 3.41

New genetic loci link adipose and insulin biology to body fat distribution. Nature (2015) 3.38

Genetic architecture of transcript-level variation in humans. Am J Hum Genet (2008) 3.36

p53 polymorphisms: cancer implications. Nat Rev Cancer (2009) 3.33

Next-generation sequencing data interpretation: enhancing reproducibility and accessibility. Nat Rev Genet (2012) 3.29

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol (2011) 3.25

T1DBase: integration and presentation of complex data for type 1 diabetes research. Nucleic Acids Res (2006) 3.25

Genome-wide association scans identified CTNNBL1 as a novel gene for obesity. Hum Mol Genet (2008) 3.24

New insights into the aetiology of colorectal cancer from genome-wide association studies. Nat Rev Genet (2009) 3.22

High-resolution DNA analysis of human embryonic stem cell lines reveals culture-induced copy number changes and loss of heterozygosity. Nat Biotechnol (2010) 3.21

A comprehensive evaluation of SNP genotype imputation. Hum Genet (2008) 3.18

Common variants in the trichohyalin gene are associated with straight hair in Europeans. Am J Hum Genet (2009) 3.18

Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry (2010) 3.13

The African Genome Variation Project shapes medical genetics in Africa. Nature (2014) 3.11

The genetics of type 2 diabetes: what have we learned from GWAS? Ann N Y Acad Sci (2010) 3.09

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol (2011) 3.09

A robust framework for detecting structural variations in a genome. Bioinformatics (2008) 3.03

A haplotype map of the human genome. Nature (2005) 105.70

Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27

Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66

A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet (2006) 12.45

Integrating ethics and science in the International HapMap Project. Nat Rev Genet (2004) 5.13

Community engagement and informed consent in the International HapMap project. Community Genet (2007) 1.73