Published in Am J Hum Genet on August 10, 2012
Improved whole-chromosome phasing for disease and population genetic studies. Nat Methods (2013) 5.43
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med (2013) 3.90
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. Nature (2013) 2.57
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am J Hum Genet (2014) 2.53
A general approach for haplotype phasing across the full spectrum of relatedness. PLoS Genet (2014) 2.38
Mapping DNA methylation across development, genotype and schizophrenia in the human frontal cortex. Nat Neurosci (2015) 2.31
Quantifying missing heritability at known GWAS loci. PLoS Genet (2013) 1.55
Fast and accurate imputation of summary statistics enhances evidence of functional enrichment. Bioinformatics (2014) 1.31
The genome sequence of the most widely cultivated cacao type and its use to identify candidate genes regulating pod color. Genome Biol (2013) 1.26
Contribution of genetic variation to transgenerational inheritance of DNA methylation. Genome Biol (2014) 1.20
Efficient haplotype matching and storage using the positional Burrows-Wheeler transform (PBWT). Bioinformatics (2014) 1.15
Genetic and environmental exposures constrain epigenetic drift over the human life course. Genome Res (2014) 1.13
Next Generation Statistical Genetics: Modeling, Penalization, and Optimization in High-Dimensional Data. Annu Rev Stat Appl (2014) 1.08
Population genetic differentiation of height and body mass index across Europe. Nat Genet (2015) 1.03
Next-generation genotype imputation service and methods. Nat Genet (2016) 1.01
Fast and accurate long-range phasing in a UK Biobank cohort. Nat Genet (2016) 1.00
Reference-based phasing using the Haplotype Reference Consortium panel. Nat Genet (2016) 0.98
Reducing pervasive false-positive identical-by-descent segments detected by large-scale pedigree analysis. Mol Biol Evol (2014) 0.98
The genetic legacy of the expansion of Turkic-speaking nomads across Eurasia. PLoS Genet (2015) 0.94
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process. Biomed Res Int (2015) 0.93
Parente2: a fast and accurate method for detecting identity by descent. Genome Res (2014) 0.87
Haplotype estimation for biobank-scale data sets. Nat Genet (2016) 0.85
A bioinformatics workflow for detecting signatures of selection in genomic data. Front Genet (2014) 0.85
A dynamic Bayesian Markov model for phasing and characterizing haplotypes in next-generation sequencing. Bioinformatics (2013) 0.82
FISH: fast and accurate diploid genotype imputation via segmental hidden Markov model. Bioinformatics (2014) 0.82
Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation. Nat Commun (2016) 0.81
Imputation-based assessment of next generation rare exome variant arrays. Pac Symp Biocomput (2014) 0.80
iXora: exact haplotype inferencing and trait association. BMC Genet (2013) 0.80
Assumption-free estimation of the genetic contribution to refractive error across childhood. Mol Vis (2015) 0.79
EigenGWAS: finding loci under selection through genome-wide association studies of eigenvectors in structured populations. Heredity (Edinb) (2016) 0.79
Strategies for Imputing and Analyzing Rare Variants in Association Studies. Trends Genet (2015) 0.79
An effective filter for IBD detection in large data sets. PLoS One (2014) 0.78
Shared genetic control of expression and methylation in peripheral blood. BMC Genomics (2016) 0.77
Genetic and socioeconomic study of mate choice in Latinos reveals novel assortment patterns. Proc Natl Acad Sci U S A (2015) 0.77
WinHAP2: an extremely fast haplotype phasing program for long genotype sequences. BMC Bioinformatics (2014) 0.77
Autosomal genetic control of human gene expression does not differ across the sexes. Genome Biol (2016) 0.76
High rates of phasing errors in highly polymorphic species with low levels of linkage disequilibrium. Mol Ecol Resour (2016) 0.76
Imputation of microsatellite alleles from dense SNP genotypes for parentage verification across multiple Bos taurus and Bos indicus breeds. Front Genet (2013) 0.76
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis. Nat Commun (2017) 0.75
Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. PLoS One (2017) 0.75
Performance of an allele-level multi-locus HLA genotype imputation tool in hematopoietic stem cell donors from Quebec. Immun Inflamm Dis (2017) 0.75
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature (2007) 144.95
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A (2009) 54.68
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet (2009) 30.09
A map of recent positive selection in the human genome. PLoS Biol (2006) 29.19
A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet (2006) 28.32
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol (2010) 26.41
Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am J Hum Genet (2007) 24.68
Detecting recent positive selection in the human genome from haplotype structure. Nature (2002) 22.00
Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data. Genetics (2003) 17.73
Genotype imputation for genome-wide association studies. Nat Rev Genet (2010) 14.59
Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet (2005) 14.09
A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet (2006) 12.45
Detection of sharing by descent, long-range phasing and haplotype imputation. Nat Genet (2008) 9.69
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Genotype imputation with thousands of genomes. G3 (Bethesda) (2011) 8.77
A linear complexity phasing method for thousands of genomes. Nat Methods (2011) 8.30
Haplotype inference in random population samples. Am J Hum Genet (2002) 8.07
Genotype-imputation accuracy across worldwide human populations. Am J Hum Genet (2009) 7.28
Sensitive detection of chromosomal segments of distinct ancestry in admixed populations. PLoS Genet (2009) 6.36
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature (2007) 6.10
Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol (2010) 5.32
Whole population, genome-wide mapping of hidden relatedness. Genome Res (2008) 4.72
Haplotype phasing: existing methods and new developments. Nat Rev Genet (2011) 4.66
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet (2009) 4.61
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nat Genet (2008) 3.36
Principal component analysis of genetic data. Nat Genet (2008) 2.33
Effect of genetic divergence in identifying ancestral origin using HAPAA. Genome Res (2008) 2.15
Imputation of low-frequency variants using the HapMap3 benefits from large, diverse reference sets. Eur J Hum Genet (2011) 1.68
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet (2011) 1.63
Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet (2006) 115.71
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet (2003) 53.59
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51
Population structure and eigenanalysis. PLoS Genet (2006) 37.21
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
Sequencing and comparison of yeast species to identify genes and regulatory elements. Nature (2003) 29.16
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res (2007) 19.07
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Assessing the impact of population stratification on genetic association studies. Nat Genet (2004) 16.28
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Calibrating a coalescent simulation of human genome sequence variation. Genome Res (2005) 15.04
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Rare variants create synthetic genome-wide associations. PLoS Biol (2010) 14.43
Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet (2007) 14.37
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet (2006) 12.45
Methods for high-density admixture mapping of disease genes. Am J Hum Genet (2004) 12.02
Genetic signatures of strong recent positive selection at the lactase gene. Am J Hum Genet (2004) 11.90
A high-density admixture map for disease gene discovery in african americans. Am J Hum Genet (2004) 10.87
Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men. Proc Natl Acad Sci U S A (2006) 10.32
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
A mechanism of cyclin D1 action encoded in the patterns of gene expression in human cancer. Cell (2003) 9.81
MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet (2008) 9.50
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Reconstructing Indian population history. Nature (2009) 9.28
Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature (2010) 8.99
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98
New approaches to population stratification in genome-wide association studies. Nat Rev Genet (2010) 7.97
A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89
Comparison of fine-scale recombination rates in humans and chimpanzees. Science (2005) 7.86
Discerning the ancestry of European Americans in genetic association studies. PLoS Genet (2007) 7.81
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
Identification of ALK as a major familial neuroblastoma predisposition gene. Nature (2008) 7.38
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
A common genetic risk factor for colorectal and prostate cancer. Nat Genet (2007) 7.11
Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell (2003) 6.77
Genetic evidence for complex speciation of humans and chimpanzees. Nature (2006) 6.66
Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans. Nat Genet (2007) 6.63
Analysing biological pathways in genome-wide association studies. Nat Rev Genet (2010) 6.63
Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle. Proc Natl Acad Sci U S A (2004) 6.53
Sensitive detection of chromosomal segments of distinct ancestry in admixed populations. PLoS Genet (2009) 6.36
Efficient mapping of mendelian traits in dogs through genome-wide association. Nat Genet (2007) 5.99
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nat Genet (2004) 5.31
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
A whole-genome admixture scan finds a candidate locus for multiple sclerosis susceptibility. Nat Genet (2005) 5.02
Ancient admixture in human history. Genetics (2012) 4.99
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet (2012) 4.87
Impact of in-scanner head motion on multiple measures of functional connectivity: relevance for studies of neurodevelopment in youth. Neuroimage (2012) 4.84
A genomewide admixture map for Latino populations. Am J Hum Genet (2007) 4.71
Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies. Lancet (2012) 4.63
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction. Nat Genet (2005) 4.45
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med (2013) 4.37
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
Sequencing the nuclear genome of the extinct woolly mammoth. Nature (2008) 4.31
An improved framework for confound regression and filtering for control of motion artifact in the preprocessing of resting-state functional connectivity data. Neuroimage (2012) 4.30
Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry (2011) 4.29
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic Acids Res (2008) 4.22
Variants of DENND1B associated with asthma in children. N Engl J Med (2009) 4.18
Copy number variation at 1q21.1 associated with neuroblastoma. Nature (2009) 4.10
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N Engl J Med (2008) 3.80
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. PLoS Genet (2009) 3.60
Functional enhancers at the gene-poor 8q24 cancer-linked locus. PLoS Genet (2009) 3.59
Testing for ancient admixture between closely related populations. Mol Biol Evol (2011) 3.56
Denisova admixture and the first modern human dispersals into Southeast Asia and Oceania. Am J Hum Genet (2011) 3.53
Reconstructing Native American population history. Nature (2012) 3.49
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. Am J Hum Genet (2009) 3.41
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. Nat Genet (2008) 3.36
Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. Am J Hum Genet (2009) 3.19
Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry (2010) 3.13