Published in Nat Genet on February 19, 2006
Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res (2008) 157.44
SNP detection for massively parallel whole-genome resequencing. Genome Res (2009) 15.96
Evaluation of next generation sequencing platforms for population targeted sequencing studies. Genome Biol (2009) 9.59
Rapid whole-genome mutational profiling using next-generation sequencing technologies. Genome Res (2008) 8.01
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res (2009) 6.83
Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans. Nat Genet (2007) 6.63
Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun (2010) 4.39
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet (2011) 3.55
Drug-sensitive FGFR2 mutations in endometrial carcinoma. Proc Natl Acad Sci U S A (2008) 3.30
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature (2014) 3.29
A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction. PLoS Genet (2008) 3.25
PolyScan: an automatic indel and SNP detection approach to the analysis of human resequencing data. Genome Res (2007) 2.58
Single nucleotide polymorphism genotyping in polyploid wheat with the Illumina GoldenGate assay. Theor Appl Genet (2009) 2.56
Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes. Genome Res (2010) 2.31
Inference of population genetic parameters in metagenomics: a clean look at messy data. Genome Res (2006) 2.17
Genetic evidence for a second domestication of barley (Hordeum vulgare) east of the Fertile Crescent. Proc Natl Acad Sci U S A (2007) 1.95
Single nucleotide polymorphisms (SNPs) distinguish Indian-origin and Chinese-origin rhesus macaques (Macaca mulatta). BMC Genomics (2007) 1.87
Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15. Hum Mutat (2010) 1.73
Linkage disequilibrium in wild mice. PLoS Genet (2007) 1.70
Analysis of chimpanzee history based on genome sequence alignments. PLoS Genet (2008) 1.55
Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation (2011) 1.51
Defining the blueprint of the cancer genome. Carcinogenesis (2008) 1.49
Nucleotide diversity maps reveal variation in diversity among wheat genomes and chromosomes. BMC Genomics (2010) 1.41
Genome-wide association studies in cancer--current and future directions. Carcinogenesis (2009) 1.39
Novel computational methods for increasing PCR primer design effectiveness in directed sequencing. BMC Bioinformatics (2008) 1.32
Generation of medaka gene knockout models by target-selected mutagenesis. Genome Biol (2006) 1.30
High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling. Nucleic Acids Res (2006) 1.28
Light whole genome sequence for SNP discovery across domestic cat breeds. BMC Genomics (2010) 1.27
Oncogenic mutations of PIK3CA in human cancers. Curr Top Microbiol Immunol (2010) 1.27
Coevolution of interacting fertilization proteins. PLoS Genet (2009) 1.26
Efficient target-selected mutagenesis in Caenorhabditis elegans: toward a knockout for every gene. Genome Res (2007) 1.20
Association of a bovine prion gene haplotype with atypical BSE. PLoS One (2008) 1.04
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. Nucleic Acids Res (2010) 1.03
Mining for single nucleotide polymorphisms in pig genome sequence data. BMC Genomics (2009) 1.02
SNP-PHAGE--High throughput SNP discovery pipeline. BMC Bioinformatics (2006) 0.99
Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma. BMC Med Genet (2009) 0.97
Statistical mutation calling from sequenced overlapping DNA pools in TILLING experiments. BMC Bioinformatics (2011) 0.97
Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations. Pharmacogenomics J (2011) 0.96
Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. Eur J Hum Genet (2010) 0.95
Massively parallel sequencing: the new frontier of hematologic genomics. Blood (2013) 0.93
Microarray for hepatitis B virus genotyping and detection of 994 mutations along the genome. J Clin Microbiol (2010) 0.92
Highly punctuated patterns of population structure on the X chromosome and implications for African evolutionary history. Am J Hum Genet (2010) 0.90
Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway. Hum Mutat (2013) 0.89
Single Nucleotide Polymorphism (SNP) Detection and Genotype Calling from Massively Parallel Sequencing (MPS) Data. Stat Biosci (2013) 0.89
Ligand directed signaling differences between rodent and human κ-opioid receptors. J Biol Chem (2012) 0.88
Pharmacogenetics in American Indian populations: analysis of CYP2D6, CYP3A4, CYP3A5, and CYP2C9 in the Confederated Salish and Kootenai Tribes. Pharmacogenet Genomics (2013) 0.86
Differential allelic expression of c.1568C > A at UGT2B15 is due to variation in a novel cis-regulatory element in the 3'UTR. Gene (2011) 0.86
An X chromosome-wide association analysis identifies variants in GPR174 as a risk factor for Graves' disease. J Med Genet (2013) 0.86
Detecting the effects of selection at the population level in six bovine immune genes. BMC Genet (2008) 0.84
Association of Gly972Arg variant of insulin receptor subtrate-1 and Gly1057Asp variant of insulin receptor subtrate-2 with polycystic ovary syndrome in the Chinese population. J Ovarian Res (2014) 0.83
Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol (2010) 0.82
Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing. Sci Rep (2015) 0.82
Evidence of balanced diversity at the chicken interleukin 4 receptor alpha chain locus. BMC Evol Biol (2009) 0.81
Variation in genes controlling warfarin disposition and response in American Indian and Alaska Native people: CYP2C9, VKORC1, CYP4F2, CYP4F11, GGCX. Pharmacogenet Genomics (2015) 0.81
Allele-specific down-regulation of RPTOR expression induced by retinoids contributes to climate adaptations. PLoS Genet (2010) 0.81
ACSL6 is associated with the number of cigarettes smoked and its expression is altered by chronic nicotine exposure. PLoS One (2011) 0.80
Contrasting evolution of diversity at two disease-associated chicken genes. Immunogenetics (2009) 0.80
A single-nucleotide polymorphism in the EAP1 gene is associated with amenorrhea/oligomenorrhea in nonhuman primates. Endocrinology (2011) 0.79
A sequencing strategy for identifying variation throughout the prion gene of BSE-affected cattle. BMC Res Notes (2008) 0.78
Contrasting patterns of sequence evolution at the functionally redundant bric à brac paralogs in Drosophila melanogaster. J Mol Evol (2009) 0.77
Population-Based Resequencing of LIPG and ZNF202 Genes in Subjects with Extreme HDL Levels. Front Genet (2012) 0.76
A Bayesian Model for SNP Discovery Based on Next-Generation Sequencing Data. IEEE Int Workshop Genomic Signal Process Stat (2012) 0.75
Base-calling algorithm with vocabulary (BCV) method for analyzing population sequencing chromatograms. PLoS One (2013) 0.75
DiSNPindel: improved intra-individual SNP and InDel detection in direct amplicon sequencing of a diploid. BMC Bioinformatics (2015) 0.75
Rare intronic variants of TCF7L2 arising by selective sweeps in an indigenous population from Mexico. BMC Genet (2016) 0.75
The Crumbs_C isoform of Drosophila shows tissue- and stage-specific expression and prevents light-dependent retinal degeneration. Biol Open (2017) 0.75
Local selection of human populations shapes complex evolution patterns of CXCL10 gene. Immunogenetics (2013) 0.75
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol (2010) 26.41
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet (2003) 21.52
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet (2005) 14.09
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Genotype, haplotype and copy-number variation in worldwide human populations. Nature (2008) 12.40
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med (2005) 8.77
Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet (2010) 8.55
Mapping complex disease loci in whole-genome association studies. Nature (2004) 7.31
Genotype-imputation accuracy across worldwide human populations. Am J Hum Genet (2009) 7.28
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol (2004) 7.11
Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat Genet (2004) 6.99
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods (2009) 6.36
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. Am J Hum Genet (2012) 5.48
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47
Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet (2003) 5.30
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94
Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia. Nat Genet (2011) 4.93
Genomic regions exhibiting positive selection identified from dense genotype data. Genome Res (2005) 4.81
Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet (2008) 4.53
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods (2010) 4.51
Copy number variation detection and genotyping from exome sequence data. Genome Res (2012) 4.44
Completing the map of human genetic variation. Nature (2007) 4.38
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
Pattern of sequence variation across 213 environmental response genes. Genome Res (2004) 3.93
Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. Am J Hum Genet (2004) 3.91
Mutational and selective effects on copy-number variants in the human genome. Nat Genet (2007) 3.82
Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. Hum Mol Genet (2004) 3.73
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. Circulation (2011) 3.68
Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Am J Hum Genet (2008) 3.61
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. Proc Natl Acad Sci U S A (2011) 3.54
Genetic ancestry in lung-function predictions. N Engl J Med (2010) 3.30
Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28
Association of polymorphisms in the CRP gene with circulating C-reactive protein levels and cardiovascular events. JAMA (2006) 3.26
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12
De novo rates and selection of large copy number variation. Genome Res (2010) 3.08
Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study. Am J Cardiol (2006) 2.94
Estimating coverage and power for genetic association studies using near-complete variation data. Nat Genet (2008) 2.80
Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels. Am J Hum Genet (2005) 2.71
Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. PLoS Genet (2011) 2.68
Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis. Am J Respir Crit Care Med (2008) 2.64
Automating resequencing-based detection of insertion-deletion polymorphisms. Nat Genet (2006) 2.61
Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition. Genome Res (2011) 2.52
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet (2012) 2.50
A statin-dependent QTL for GATM expression is associated with statin-induced myopathy. Nature (2013) 2.46
Strengthening the reporting of genetic association studies (STREGA): an extension of the strengthening the reporting of observational studies in epidemiology (STROBE) statement. J Clin Epidemiol (2009) 2.45
Genome-wide association of lipid-lowering response to statins in combined study populations. PLoS One (2010) 2.43
STrengthening the REporting of Genetic Association Studies (STREGA): an extension of the STROBE statement. PLoS Med (2009) 2.39
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet (2011) 2.38
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res (2009) 2.29
A comparison of approaches to account for uncertainty in analysis of imputed genotypes. Genet Epidemiol (2011) 2.19
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet (2012) 2.14
The patterns of natural variation in human genes. Annu Rev Genomics Hum Genet (2005) 2.12
Genetic variation is associated with C-reactive protein levels in the Third National Health and Nutrition Examination Survey. Circulation (2006) 2.00
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res (2011) 1.93
Methods for genomic partitioning. Annu Rev Genomics Hum Genet (2009) 1.93
Multiple screening in general practice. Br Med J (1968) 1.91
Genetic ancestry, population sub-structure, and cardiovascular disease-related traits among African-American participants in the CARDIA Study. Hum Genet (2007) 1.91
Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia. Blood (2012) 1.90
Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Circ Cardiovasc Genet (2008) 1.89
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am J Hum Genet (2009) 1.87
STrengthening the REporting of Genetic Association studies (STREGA)--an extension of the STROBE statement. Eur J Clin Invest (2009) 1.82
Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. J Natl Cancer Inst (2013) 1.81
Definition and clinical importance of haplotypes. Annu Rev Med (2005) 1.79
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ Cardiovasc Genet (2012) 1.78
Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools. Bioinformatics (2011) 1.73
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
Linkage disequilibrium in wild mice. PLoS Genet (2007) 1.70
Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. Blood (2013) 1.69
Variation in the 3-hydroxyl-3-methylglutaryl coenzyme a reductase gene is associated with racial differences in low-density lipoprotein cholesterol response to simvastatin treatment. Circulation (2008) 1.68
Efficient selection of tagging single-nucleotide polymorphisms in multiple populations. Hum Genet (2006) 1.66
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.65
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63
High-throughput genotyping of intermediate-size structural variation. Hum Mol Genet (2006) 1.61
Tracing sub-structure in the European American population with PCA-informative markers. PLoS Genet (2008) 1.56
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.53
Exome sequencing in suspected monogenic dyslipidemias. Circ Cardiovasc Genet (2015) 1.51
Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE Statement. Hum Genet (2009) 1.47
Population structure, migration, and diversifying selection in the Netherlands. Eur J Hum Genet (2013) 1.47