Published in Genome Res on February 11, 2010
Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet (2011) 18.88
Low-coverage sequencing: implications for design of complex trait association studies. Genome Res (2011) 5.34
Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes. Am J Hum Genet (2010) 2.98
A statistical method for the detection of variants from next-generation resequencing of DNA pools. Bioinformatics (2010) 2.94
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies. Nat Genet (2012) 2.50
Efficiency and power as a function of sequence coverage, SNP array density, and imputation. PLoS Comput Biol (2012) 2.29
Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study. Genome Biol (2011) 2.16
Reliable detection of subclonal single-nucleotide variants in tumour cell populations. Nat Commun (2012) 2.06
Estimation of allele frequency and association mapping using next-generation sequencing data. BMC Bioinformatics (2011) 1.93
Association studies for next-generation sequencing. Genome Res (2011) 1.89
NGS technologies for analyzing germplasm diversity in genebanks. Brief Funct Genomics (2012) 1.76
Construction and analysis of high-density linkage map using high-throughput sequencing data. PLoS One (2014) 1.58
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. J Am Soc Nephrol (2012) 1.57
Replication strategies for rare variant complex trait association studies via next-generation sequencing. Am J Hum Genet (2010) 1.51
Development and validation of a 20K single nucleotide polymorphism (SNP) whole genome genotyping array for apple (Malus × domestica Borkh). PLoS One (2014) 1.50
Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing. PLoS One (2011) 1.44
Efficient study design for next generation sequencing. Genet Epidemiol (2011) 1.36
A new approach for detecting low-level mutations in next-generation sequence data. Genome Biol (2012) 1.35
Discovery of rare mutations in populations: TILLING by sequencing. Plant Physiol (2011) 1.32
Functional linear models for association analysis of quantitative traits. Genet Epidemiol (2013) 1.26
Next generation sequencing has lower sequence coverage and poorer SNP-detection capability in the regulatory regions. Sci Rep (2011) 1.25
Empirical validation of pooled whole genome population re-sequencing in Drosophila melanogaster. PLoS One (2012) 1.16
Pleiotropy analysis of quantitative traits at gene level by multivariate functional linear models. Genet Epidemiol (2015) 1.16
Population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level. Genome Biol (2010) 1.12
A probabilistic method for the detection and genotyping of small indels from population-scale sequence data. Bioinformatics (2011) 1.04
Next generation sequencing in cardiovascular diseases. World J Cardiol (2012) 1.04
Generalized functional linear models for gene-based case-control association studies. Genet Epidemiol (2014) 0.99
Low-pass genome-wide sequencing and variant inference using identity-by-descent in an isolated human population. Genetics (2011) 0.99
Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development. J Biomol Tech (2010) 0.98
LDx: estimation of linkage disequilibrium from high-throughput pooled resequencing data. PLoS One (2012) 0.95
Assessing the accuracy and power of population genetic inference from low-pass next-generation sequencing data. Front Genet (2012) 0.94
Combining family- and population-based imputation data for association analysis of rare and common variants in large pedigrees. Genet Epidemiol (2014) 0.93
Polymorphism discovery and allele frequency estimation using high-throughput DNA sequencing of target-enriched pooled DNA samples. BMC Genomics (2012) 0.92
PyroHMMsnp: an SNP caller for Ion Torrent and 454 sequencing data. Nucleic Acids Res (2013) 0.91
Inference of population mutation rate and detection of segregating sites from next-generation sequence data. Genetics (2011) 0.91
Inference of tumor phylogenies with improved somatic mutation discovery. J Comput Biol (2013) 0.89
Single Nucleotide Polymorphism (SNP) Detection and Genotype Calling from Massively Parallel Sequencing (MPS) Data. Stat Biosci (2013) 0.89
Variant identification in multi-sample pools by illumina genome analyzer sequencing. J Biomol Tech (2011) 0.88
AbCD: arbitrary coverage design for sequencing-based genetic studies. Bioinformatics (2013) 0.83
A novel application of pattern recognition for accurate SNP and indel discovery from high-throughput data: targeted resequencing of the glucocorticoid receptor co-chaperone FKBP5 in a Caucasian population. Mol Genet Metab (2011) 0.83
Identification and analysis of genome-wide SNPs provide insight into signatures of selection and domestication in channel catfish (Ictalurus punctatus). PLoS One (2014) 0.83
Fast individual ancestry inference from DNA sequence data leveraging allele frequencies for multiple populations. BMC Bioinformatics (2015) 0.83
Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits. Eur J Hum Genet (2011) 0.82
A cross-sample statistical model for SNP detection in short-read sequencing data. Nucleic Acids Res (2011) 0.80
Preparing DNA libraries for multiplexed paired-end deep sequencing for Illumina GA sequencers. Curr Protoc Microbiol (2011) 0.78
Estimating the information value of polymorphic sites using pooled sequences. BMC Genomics (2014) 0.78
VarBin, a novel method for classifying true and false positive variants in NGS data. BMC Bioinformatics (2013) 0.75
Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing. J Thyroid Res (2012) 0.75
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol (2009) 235.12
Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94
Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res (2008) 157.44
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet (2007) 52.68
The diploid genome sequence of an Asian individual. Nature (2008) 46.29
SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics (2009) 39.47
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature (2008) 38.13
Next-generation DNA sequencing. Nat Biotechnol (2008) 34.95
Substantial biases in ultra-short read data sets from high-throughput DNA sequencing. Nucleic Acids Res (2008) 26.36
Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science (2004) 21.65
Genome-wide in situ exon capture for selective resequencing. Nat Genet (2007) 19.97
Genotype imputation. Annu Rev Genomics Hum Genet (2009) 18.64
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science (2009) 16.35
SNP detection for massively parallel whole-genome resequencing. Genome Res (2009) 15.96
Imputation-based analysis of association studies: candidate regions and quantitative traits. PLoS Genet (2007) 15.55
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res (2009) 15.15
Multiplex amplification of large sets of human exons. Nat Methods (2007) 15.11
Slider--maximum use of probability information for alignment of short sequence reads and SNP detection. Bioinformatics (2008) 14.04
Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet (2008) 11.80
Microarray-based genomic selection for high-throughput resequencing. Nat Methods (2007) 9.62
Evaluation of next generation sequencing platforms for population targeted sequencing studies. Genome Biol (2009) 9.59
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci U S A (2006) 8.20
Identification of genetic variants using bar-coded multiplexed sequencing. Nat Methods (2008) 7.50
Alta-Cyclic: a self-optimizing base caller for next-generation sequencing. Nat Methods (2008) 5.70
Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population. Genome Res (2003) 2.75
Methods for genomic partitioning. Annu Rev Genomics Hum Genet (2009) 1.93
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
Whole-genome patterns of common DNA variation in three human populations. Science (2005) 21.22
Clopidogrel and aspirin versus aspirin alone for the prevention of atherothrombotic events. N Engl J Med (2006) 18.25
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
Human genetic variation and its contribution to complex traits. Nat Rev Genet (2009) 12.11
Early and sustained dual oral antiplatelet therapy following percutaneous coronary intervention: a randomized controlled trial. JAMA (2002) 11.06
Common sequence polymorphisms shaping genetic diversity in Arabidopsis thaliana. Science (2007) 9.85
Common deletions and SNPs are in linkage disequilibrium in the human genome. Nat Genet (2005) 9.61
Evaluation of next generation sequencing platforms for population targeted sequencing studies. Genome Biol (2009) 9.59
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
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
Effect of direct-to-consumer genomewide profiling to assess disease risk. N Engl J Med (2011) 6.90
High-resolution whole-genome association study of Parkinson disease. Am J Hum Genet (2005) 6.86
Effect of stromal-cell-derived factor 1 on stem-cell homing and tissue regeneration in ischaemic cardiomyopathy. Lancet (2003) 6.85
Common vs. rare allele hypotheses for complex diseases. Curr Opin Genet Dev (2009) 6.85
Prevalence of conventional risk factors in patients with coronary heart disease. JAMA (2003) 6.84
Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet (2010) 6.79
Standard- vs high-dose clopidogrel based on platelet function testing after percutaneous coronary intervention: the GRAVITAS randomized trial. JAMA (2011) 6.39
9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response. Nature (2011) 6.25
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides. Nat Genet (2008) 6.06
Prognostic value of myeloperoxidase in patients with chest pain. N Engl J Med (2003) 5.89
A prospective, blinded determination of the natural history of aspirin resistance among stable patients with cardiovascular disease. J Am Coll Cardiol (2003) 5.51
Use of antioxidant vitamins for the prevention of cardiovascular disease: meta-analysis of randomised trials. Lancet (2003) 5.34
The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nat Genet (2004) 5.31
Relationship of blood transfusion and clinical outcomes in patients with acute coronary syndromes. JAMA (2004) 5.11
Platelet glycoprotein IIb/IIIa inhibitors in acute coronary syndromes: a meta-analysis of all major randomised clinical trials. Lancet (2002) 5.04
Fine-scale recombination patterns differ between chimpanzees and humans. Nat Genet (2005) 5.00
Implementing genomic medicine in the clinic: the future is here. Genet Med (2013) 4.89
Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat Biotechnol (2009) 4.80
Can mobile health technologies transform health care? JAMA (2013) 4.75
The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell (2002) 4.72
Critical issues in peripheral arterial disease detection and management: a call to action. Arch Intern Med (2003) 4.72
Genomewide SNP variation reveals relationships among landraces and modern varieties of rice. Proc Natl Acad Sci U S A (2009) 4.65
Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies. Am J Hum Genet (2004) 4.51
A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction. Nat Genet (2005) 4.45
Protein carbamylation links inflammation, smoking, uremia and atherogenesis. Nat Med (2007) 4.30
Effect of muraglitazar on death and major adverse cardiovascular events in patients with type 2 diabetes mellitus. JAMA (2005) 4.23
Histopathology of pediatric nonalcoholic fatty liver disease. Hepatology (2005) 4.21
Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes (2008) 4.20
An agenda for personalized medicine. Nature (2009) 4.14
Pathway analysis of seven common diseases assessed by genome-wide association. Genomics (2008) 4.11
Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet (2010) 3.97
Accommodating linkage disequilibrium in genetic-association analyses via ridge regression. Am J Hum Genet (2008) 3.86
Generalized genomic distance-based regression methodology for multilocus association analysis. Am J Hum Genet (2006) 3.79
Transgenerational epigenetic instability is a source of novel methylation variants. Science (2011) 3.66
Relationship of paraoxonase 1 (PON1) gene polymorphisms and functional activity with systemic oxidative stress and cardiovascular risk. JAMA (2008) 3.64
A second-generation combined linkage physical map of the human genome. Genome Res (2007) 3.60
Lack of adverse clopidogrel-atorvastatin clinical interaction from secondary analysis of a randomized, placebo-controlled clopidogrel trial. Circulation (2003) 3.38
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37
Mutation of MEF2A in an inherited disorder with features of coronary artery disease. Science (2003) 3.34
Power to detect risk alleles using genome-wide tag SNP panels. PLoS Genet (2007) 3.29
Multicenter validation of the diagnostic accuracy of a blood-based gene expression test for assessing obstructive coronary artery disease in nondiabetic patients. Ann Intern Med (2010) 3.17
Heritability of nonalcoholic fatty liver disease. Gastroenterology (2009) 3.17
Identification of liver cancer progenitors whose malignant progression depends on autocrine IL-6 signaling. Cell (2013) 3.08
Analysis of allelic differential expression in human white blood cells. Genome Res (2006) 3.07
Analysis of risk of bleeding complications after different doses of aspirin in 192,036 patients enrolled in 31 randomized controlled trials. Am J Cardiol (2005) 3.05
Troponin T levels in patients with acute coronary syndromes, with or without renal dysfunction. N Engl J Med (2002) 3.01
Economic evaluation of bivalirudin with provisional glycoprotein IIB/IIIA inhibition versus heparin with routine glycoprotein IIB/IIIA inhibition for percutaneous coronary intervention: results from the REPLACE-2 trial. J Am Coll Cardiol (2004) 2.97
Characterization of circulating endothelial cells in acute myocardial infarction. Sci Transl Med (2012) 2.91
Initial heritability analyses of endophenotypic measures for schizophrenia: the consortium on the genetics of schizophrenia. Arch Gen Psychiatry (2007) 2.91
Arthritis medicines and cardiovascular events--"house of coxibs". JAMA (2004) 2.89
Aspirin and clopidogrel resistance: an emerging clinical entity. Eur Heart J (2005) 2.80
Association of common genetic variation in the insulin/IGF1 signaling pathway with human longevity. Aging Cell (2009) 2.79
A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African Americans. Am J Hypertens (2003) 2.76
Patterns of population epigenomic diversity. Nature (2013) 2.70
Methods for handling multiple testing. Adv Genet (2008) 2.67
Facilitated PCI in patients with ST-elevation myocardial infarction. N Engl J Med (2008) 2.61
Variability in platelet responsiveness to clopidogrel among 544 individuals. J Am Coll Cardiol (2005) 2.59
Patients with prior myocardial infarction, stroke, or symptomatic peripheral arterial disease in the CHARISMA trial. J Am Coll Cardiol (2007) 2.56
Propensity analysis of long-term survival after surgical or percutaneous revascularization in patients with multivessel coronary artery disease and high-risk features. Circulation (2004) 2.54
International differences in evolution of early discharge after acute myocardial infarction. Lancet (2004) 2.47
Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology. Proc Natl Acad Sci U S A (2010) 2.47
Long-term outcome and its predictors among patients with ST-segment elevation myocardial infarction complicated by shock: insights from the GUSTO-I trial. J Am Coll Cardiol (2007) 2.47
A polymorphism in the protease-like domain of apolipoprotein(a) is associated with severe coronary artery disease. Arterioscler Thromb Vasc Biol (2007) 2.47