Published in Curr Protoc Hum Genet on January 01, 2011
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol (2013) 4.85
Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study. J Am Med Inform Assoc (2011) 4.20
Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. Circulation (2013) 2.06
Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network. Hum Genet (2011) 2.00
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet (2015) 1.55
FastUniq: a fast de novo duplicates removal tool for paired short reads. PLoS One (2012) 1.54
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. Hum Genet (2013) 1.47
Next generation analytic tools for large scale genetic epidemiology studies of complex diseases. Genet Epidemiol (2011) 1.47
Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks. PLoS One (2011) 1.42
eMERGEing progress in genomics-the first seven years. Front Genet (2014) 1.30
Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality. Genet Epidemiol (2011) 1.26
Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. Nat Commun (2015) 1.14
High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE. Clin Transl Sci (2012) 1.13
Secondary use of clinical data: the Vanderbilt approach. J Biomed Inform (2014) 1.12
A genome-wide association study of resistance to stripe rust (Puccinia striiformis f. sp. tritici) in a worldwide collection of hexaploid spring wheat (Triticum aestivum L.). G3 (Bethesda) (2015) 1.05
Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. Mayo Clin Proc (2012) 1.05
Next-generation analysis of cataracts: determining knowledge driven gene-gene interactions using Biofilter, and gene-environment interactions using the PhenX Toolkit. Pac Symp Biocomput (2013) 1.02
Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. G3 (Bethesda) (2013) 1.00
Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer. PLoS One (2013) 0.98
Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6. Genes Brain Behav (2012) 0.98
Genetic studies of Crohn's disease: past, present and future. Best Pract Res Clin Gastroenterol (2014) 0.94
Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. PLoS One (2013) 0.94
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index. Front Genet (2014) 0.92
Common variants within oxidative phosphorylation genes influence risk of ischemic stroke and intracerebral hemorrhage. Stroke (2013) 0.86
Phenotyping clinical disorders: lessons learned from pelvic organ prolapse. Am J Obstet Gynecol (2012) 0.85
Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain. Epigenetics (2014) 0.85
Genotype-informed estimation of risk of coronary heart disease based on genome-wide association data linked to the electronic medical record. BMC Cardiovasc Disord (2011) 0.85
pyGenClean: efficient tool for genetic data clean up before association testing. Bioinformatics (2013) 0.84
Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network. PLoS One (2014) 0.84
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. Am J Hum Genet (2015) 0.84
Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network. Genet Epidemiol (2015) 0.83
Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci. Mol Vis (2014) 0.82
Statistical Optimization of Pharmacogenomics Association Studies: Key Considerations from Study Design to Analysis. Curr Pharmacogenomics Person Med (2011) 0.82
Letter to the editor: expression of concern, reaffirmed. Age (Dordr) (2013) 0.82
Genomic prediction of traits related to canine hip dysplasia. Front Genet (2015) 0.82
Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data. Am J Hum Genet (2016) 0.82
Detrimental effects of duplicate reads and low complexity regions on RNA- and ChIP-seq data. BMC Bioinformatics (2015) 0.81
The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study. Front Genet (2014) 0.81
Identification of a Novel Mucin Gene HCG22 Associated With Steroid-Induced Ocular Hypertension. Invest Ophthalmol Vis Sci (2015) 0.81
Evaluating the influence of quality control decisions and software algorithms on SNP calling for the affymetrix 6.0 SNP array platform. Hum Hered (2011) 0.81
A twin and molecular genetics study of sleep paralysis and associated factors. J Sleep Res (2015) 0.80
Quantitative trait loci mapping for canine hip dysplasia and its related traits in UK Labrador Retrievers. BMC Genomics (2014) 0.79
FKBP5 moderation of depressive symptoms in peer victimized, post-institutionalized children. Psychoneuroendocrinology (2014) 0.79
Infinium assay for large-scale SNP genotyping applications. J Vis Exp (2013) 0.78
Are Interactions between cis-Regulatory Variants Evidence for Biological Epistasis or Statistical Artifacts? Am J Hum Genet (2016) 0.78
Identification of candidate genes for prostate cancer-risk SNPs utilizing a normal prostate tissue eQTL data set. Nat Commun (2015) 0.78
Strategies for genotype imputation in composite beef cattle. BMC Genet (2015) 0.77
Big data challenges in bone research: genome-wide association studies and next-generation sequencing. Bonekey Rep (2015) 0.75
Quality Control for the Illumina HumanExome BeadChip. Curr Protoc Hum Genet (2016) 0.75
BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN. Pac Symp Biocomput (2016) 0.75
Inbreeding and homozygosity in breast cancer survival. Sci Rep (2015) 0.75
Clinical and Genetic Factors Associated with Cutaneous Squamous Cell Carcinoma in Kidney and Heart Transplant Recipients. Transplant Direct (2015) 0.75
Methylomic profiling of cortex samples from completed suicide cases implicates a role for PSORS1C3 in major depression and suicide. Transl Psychiatry (2017) 0.75
Alcohol-related genes show an enrichment of associations with a persistent externalizing factor. J Abnorm Psychol (2016) 0.75
Genome-wide study of resistant hypertension identified from electronic health records. PLoS One (2017) 0.75
GACT: a Genome build and Allele definition Conversion Tool for SNP imputation and meta-analysis in genetic association studies. BMC Genomics (2014) 0.75
Population Stratification in the Context of Diverse Epidemiologic Surveys Sans Genome-Wide Data. Front Genet (2016) 0.75
Genomic Regions Associated With Interspecies Communication in Dogs Contain Genes Related to Human Social Disorders. Sci Rep (2016) 0.75
A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis. PLoS One (2016) 0.75
Identifying and mitigating batch effects in whole genome sequencing data. BMC Bioinformatics (2017) 0.75
Genetic loci associated with an earlier age at onset in multiplex schizophrenia. Sci Rep (2017) 0.75
A SNP panel and online tool for checking genotype concordance through comparing QR codes. PLoS One (2017) 0.75
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
Inference of population structure using multilocus genotype data. Genetics (2000) 147.76
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
dbSNP: the NCBI database of genetic variation. Nucleic Acids Res (2001) 76.97
The International HapMap Project. Nature (2003) 73.65
Genomic control for association studies. Biometrics (1999) 64.39
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
Population structure and eigenanalysis. PLoS Genet (2006) 37.21
Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet (2008) 25.83
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
The NCBI dbGaP database of genotypes and phenotypes. Nat Genet (2007) 17.93
Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet (2006) 17.36
Replicating genotype-phenotype associations. Nature (2007) 16.11
The effects of human population structure on large genetic association studies. Nat Genet (2004) 14.88
Genes mirror geography within Europe. Nature (2008) 14.23
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
SLCO1B1 variants and statin-induced myopathy--a genomewide study. N Engl J Med (2008) 11.31
Population stratification and spurious allelic association. Lancet (2003) 10.53
The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics (2011) 9.20
Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet (2008) 7.36
Genomewide rapid association using mixed model and regression: a fast and simple method for genomewide pedigree-based quantitative trait loci association analysis. Genetics (2007) 7.09
Genome-wide association studies provide new insights into type 2 diabetes aetiology. Nat Rev Genet (2007) 6.55
Detecting association in a case-control study while correcting for population stratification. Genet Epidemiol (2001) 6.06
Sample size requirements for matched case-control studies of gene-environment interaction. Stat Med (2002) 5.00
Quality control and quality assurance in genotypic data for genome-wide association studies. Genet Epidemiol (2010) 4.83
Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies. Am J Hum Genet (2004) 4.51
Genomic Control to the extreme. Nat Genet (2004) 4.19
Rational inferences about departures from Hardy-Weinberg equilibrium. Am J Hum Genet (2005) 4.15
HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genet (2009) 4.11
Genome-wide association of lipid-lowering response to statins in combined study populations. PLoS One (2010) 2.43
Collaborative genome-wide association studies of diverse diseases: programs of the NHGRI's office of population genomics. Pharmacogenomics (2009) 2.23
Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records. Genet Med (2010) 2.09
Comprehensive whole-genome and candidate gene analysis for response to statin therapy in the Treating to New Targets (TNT) cohort. Circ Cardiovasc Genet (2009) 1.95
Appropriate data cleaning methods for genome-wide association study. J Hum Genet (2008) 1.92
Finding unique filter sets in PLATO: a precursor to efficient interaction analysis in GWAS data. Pac Symp Biocomput (2010) 1.64
Cleaning genotype data. Genet Epidemiol (1999) 1.28
Direct detection of null alleles in SNP genotyping data. Hum Mol Genet (2006) 1.12
Comparison of population-based association study methods correcting for population stratification. PLoS One (2008) 1.11
A critical evaluation of genomic control methods for genetic association studies. Genet Epidemiol (2009) 1.06
Calculation and use of the Hardy-Weinberg model in association studies. Curr Protoc Hum Genet (2008) 0.86
Finding the missing heritability of complex diseases. Nature (2009) 67.95
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
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science (2007) 43.16
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet (2007) 22.96
Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med (2007) 17.06
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet (2007) 13.76
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet (2008) 12.51
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions. Bioinformatics (2003) 9.91
The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics (2011) 9.20
Genome partitioning of genetic variation for complex traits using common SNPs. Nat Genet (2011) 8.57
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet (2009) 8.44
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet (2009) 8.39
Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature (2009) 8.12
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
How to interpret a genome-wide association study. JAMA (2008) 7.54
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet (2008) 7.31
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet (2009) 7.16
Genetic determinants of response to warfarin during initial anticoagulation. N Engl J Med (2008) 7.13
Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol (2004) 7.11
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics (2010) 7.07
Comprehensive assessment of T-cell receptor beta-chain diversity in alphabeta T cells. Blood (2009) 7.00
High-resolution whole-genome association study of Parkinson disease. Am J Hum Genet (2005) 6.86
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res (2009) 6.83
Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. Am J Hum Genet (2010) 6.44
Electronic medical records for genetic research: results of the eMERGE consortium. Sci Transl Med (2011) 5.82
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
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Cardiovascular mortality risk in chronic kidney disease: comparison of traditional and novel risk factors. JAMA (2005) 5.46
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nat Genet (2009) 5.14
Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet (2007) 5.09
Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet (2008) 5.04
A genome-wide association study of alcohol dependence. Proc Natl Acad Sci U S A (2010) 4.94
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. Nat Genet (2010) 4.89
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol (2013) 4.85
Quality control and quality assurance in genotypic data for genome-wide association studies. Genet Epidemiol (2010) 4.83
A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet (2008) 4.75
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. Am J Med Genet A (2006) 4.56
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature (2011) 4.56
Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology. Int J Epidemiol (2008) 4.53
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nat Genet (2010) 4.47
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med (2013) 4.37
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA (2006) 4.26
Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study. J Am Med Inform Assoc (2011) 4.20
A balanced accuracy function for epistasis modeling in imbalanced datasets using multifactor dimensionality reduction. Genet Epidemiol (2007) 4.15
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose. Blood (2008) 4.02
Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA (2005) 3.99
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
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. Am J Hum Genet (2011) 3.85