Published in Am J Hum Genet on July 03, 2014
Annual Research Review: Discovery science strategies in studies of the pathophysiology of child and adolescent psychiatric disorders - promises and limitations. J Child Psychol Psychiatry (2016) 1.42
Genetic linkage analysis in the age of whole-genome sequencing. Nat Rev Genet (2015) 1.24
The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease. PLoS Genet (2015) 1.08
Rare variant association studies: considerations, challenges and opportunities. Genome Med (2015) 1.05
Progress and promise in understanding the genetic basis of common diseases. Proc Biol Sci (2015) 1.02
Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer. Sci Rep (2015) 0.97
Control for Population Structure and Relatedness for Binary Traits in Genetic Association Studies via Logistic Mixed Models. Am J Hum Genet (2016) 0.96
Filtering genetic variants and placing informative priors based on putative biological function. BMC Genet (2016) 0.89
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases. Am J Hum Genet (2016) 0.88
Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes. Psychophysiology (2014) 0.88
Progress in methods for rare variant association. BMC Genet (2016) 0.88
A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing. Front Genet (2015) 0.88
How the effects of aging and stresses of life are integrated in mortality rates: insights for genetic studies of human health and longevity. Biogerontology (2015) 0.86
Test for rare variants by environment interactions in sequencing association studies. Biometrics (2015) 0.84
Genetics and Pathogenesis of Inflammatory Bowel Disease. Annu Rev Pathol (2016) 0.83
Genetics of complex traits in psychiatry. Biol Psychiatry (2014) 0.83
A perspective on interaction effects in genetic association studies. Genet Epidemiol (2016) 0.82
Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study. BMC Geriatr (2016) 0.82
Trans-ethnic meta-analysis identifies common and rare variants associated with hepatocyte growth factor levels in the Multi-Ethnic Study of Atherosclerosis (MESA). Ann Hum Genet (2015) 0.81
Functional genomics bridges the gap between quantitative genetics and molecular biology. Genome Res (2015) 0.81
metaCCA: summary statistics-based multivariate meta-analysis of genome-wide association studies using canonical correlation analysis. Bioinformatics (2016) 0.81
Exome and genome sequencing for inborn errors of immunity. J Allergy Clin Immunol (2016) 0.80
Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans. Alzheimers Res Ther (2015) 0.80
RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data. Bioinformatics (2016) 0.80
Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations. J Med Genet (2014) 0.80
Identification of rare variants in Alzheimer's disease. Front Genet (2014) 0.80
Phenotypic extremes in rare variant study designs. Eur J Hum Genet (2015) 0.80
Smokescreen: a targeted genotyping array for addiction research. BMC Genomics (2016) 0.80
Beyond Rare-Variant Association Testing: Pinpointing Rare Causal Variants in Case-Control Sequencing Study. Sci Rep (2016) 0.80
Dissecting the genetics of complex traits using summary association statistics. Nat Rev Genet (2016) 0.80
Weighted Score Tests Implementing Model-Averaging Schemes in Detection of Rare Variants in Case-Control Studies. PLoS One (2015) 0.80
Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects: A Strobe Compliant Article. Medicine (Baltimore) (2015) 0.79
Strategies for Imputing and Analyzing Rare Variants in Association Studies. Trends Genet (2015) 0.79
Prioritization Of Nonsynonymous Single Nucleotide Variants For Exome Sequencing Studies Via Integrative Learning On Multiple Genomic Data. Sci Rep (2015) 0.79
Detecting the Genomic Signature of Divergent Selection in Presence of Gene Flow. Curr Genomics (2015) 0.79
The effect of phenotypic outliers and non-normality on rare-variant association testing. Eur J Hum Genet (2016) 0.79
On Efficient and Accurate Calculation of Significance P-Values for Sequence Kernel Association Testing of Variant Set. Ann Hum Genet (2016) 0.79
Assessing gene-environment interactions for common and rare variants with binary traits using gene-trait similarity regression. Genetics (2015) 0.79
Effector-Triggered Immune Response in Arabidopsis thaliana Is a Quantitative Trait. Genetics (2016) 0.79
Extreme Trait Whole Genome Sequencing Identifies PTPRO as a Novel Candidate Gene in Emphysema with Severe Airflow Obstruction. Am J Respir Crit Care Med (2017) 0.78
Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet (2017) 0.78
An efficient resampling method for calibrating single and gene-based rare variant association analysis in case-control studies. Biostatistics (2015) 0.78
Permutation-based variance component test in generalized linear mixed model with application to multilocus genetic association study. BMC Med Res Methodol (2015) 0.78
Learning how to improve healthcare delivery: the Swedish Quality Registers. J Intern Med (2014) 0.78
iWAS - A novel approach to analyzing Next Generation Sequence data for immunology. Cell Immunol (2015) 0.78
Combining dependent P-values with an empirical adaptation of Brown's method. Bioinformatics (2016) 0.78
HYPOTHESIS TESTING FOR HIGH-DIMENSIONAL SPARSE BINARY REGRESSION. Ann Stat (2015) 0.78
Assessing the Power of Exome Chips. PLoS One (2015) 0.78
Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm. PLoS One (2015) 0.78
A New Method for Detecting Associations with Rare Copy-Number Variants. PLoS Genet (2015) 0.78
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians. Eur J Hum Genet (2017) 0.77
A general approach for combining diverse rare variant association tests provides improved robustness across a wider range of genetic architectures. Eur J Hum Genet (2015) 0.77
Infrequent TRIB3 coding variants and coronary artery disease in type 2 diabetes. Atherosclerosis (2015) 0.77
KNOWLEDGE DRIVEN BINNING AND PHEWAS ANALYSIS IN MARSHFIELD PERSONALIZED MEDICINE RESEARCH PROJECT USING BIOBIN. Pac Symp Biocomput (2016) 0.77
The Increasing Importance of Gene-Based Analyses. PLoS Genet (2016) 0.77
Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders. PLoS One (2016) 0.77
Incorporating ENCODE information into association analysis of whole genome sequencing data. BMC Proc (2016) 0.77
Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era. Semin Nephrol (2015) 0.77
FamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease Studies. PLoS Comput Biol (2016) 0.77
A new conceptual framework for investigating complex genetic disease. Front Genet (2015) 0.77
Natural variation of sucrose, glucose and fructose contents in Colombian genotypes of Solanum tuberosum Group Phureja at harvest. J Sci Food Agric (2016) 0.77
Genetics of Tinnitus: Still in its Infancy. Front Neurosci (2017) 0.77
Common and rare genetic markers of lipid variation in subjects with type 2 diabetes from the ACCORD clinical trial. PeerJ (2017) 0.76
Associating rare genetic variants with human diseases. Front Genet (2015) 0.76
Discovery of rare variants for complex phenotypes. Hum Genet (2016) 0.76
Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis. Genet Epidemiol (2016) 0.76
The evolution of the human genome. Curr Opin Genet Dev (2015) 0.76
The genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance. Breast Cancer Res (2016) 0.76
Genetics of coronary artery disease: discovery, biology and clinical translation. Nat Rev Genet (2017) 0.76
Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research. Prog Retin Eye Res (2016) 0.76
A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS. Am J Hum Genet (2017) 0.76
An Efficient Stepwise Statistical Test to Identify Multiple Linked Human Genetic Variants Associated with Specific Phenotypic Traits. PLoS One (2015) 0.75
Multiple linear combination (MLC) regression tests for common variants adapted to linkage disequilibrium structure. Genet Epidemiol (2016) 0.75
A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data. BMC Genomics (2015) 0.75
High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA. PLoS One (2016) 0.75
Low-, high-coverage, and two-stage DNA sequencing in the design of the genetic association study. Genet Epidemiol (2016) 0.75
Novel genetic matching methods for handling population stratification in genome-wide association studies. BMC Bioinformatics (2015) 0.75
Resolving the etiology of atopic disorders by using genetic analysis of racial ancestry. J Allergy Clin Immunol (2016) 0.75
Genome-Wide Association Study in Immunocompetent Patients with Delayed Hypersensitivity to Sulfonamide Antimicrobials. PLoS One (2016) 0.75
PERCH: A Unified Framework for Disease Gene Prioritization. Hum Mutat (2017) 0.75
Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project. Eur J Hum Genet (2016) 0.75
Aggregation of rare/low-frequency variants of the mitochondria respiratory chain-related proteins in rheumatoid arthritis patients. J Hum Genet (2015) 0.75
An exome-wide analysis of low frequency and rare variants in relation to risk of breast cancer in African American Women: the AMBER Consortium. Carcinogenesis (2016) 0.75
A biologically informed method for detecting rare variant associations. BioData Min (2016) 0.75
Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer's disease. BMC Med Genomics (2016) 0.75
Choosing Subsamples for Sequencing Studies by Minimizing the Average Distance to the Closest Leaf. Genetics (2015) 0.75
Comparison of gene-based rare variant association mapping methods for quantitative traits in a bovine population with complex familial relationships. Genet Sel Evol (2016) 0.75
Challenges in Rare Variant Association Studies for Complex Kidney Traits: CFHR5 and IgA Nephropathy. J Am Soc Nephrol (2016) 0.75
Transcriptome analysis and molecular marker discovery in Solanum incanum and S. aethiopicum, two close relatives of the common eggplant (Solanum melongena) with interest for breeding. BMC Genomics (2016) 0.75
Quality Control for the Illumina HumanExome BeadChip. Curr Protoc Hum Genet (2016) 0.75
Genome Wide Single Locus Single Trait, Multi-Locus and Multi-Trait Association Mapping for Some Important Agronomic Traits in Common Wheat (T. aestivum L.). PLoS One (2016) 0.75
Incorporating Non-Coding Annotations into Rare Variant Analysis. PLoS One (2016) 0.75
Whole exome sequencing of extreme age-related macular degeneration phenotypes. Mol Vis (2016) 0.75
Whole-Exome Sequencing to Identify Novel Biological Pathways Associated With Infertility After Pelvic Inflammatory Disease. Sex Transm Dis (2017) 0.75
On Sample Size and Power Calculation for Variant Set-Based Association Tests. Ann Hum Genet (2016) 0.75
Screening of whole genome sequences identified high-impact variants for stallion fertility. BMC Genomics (2016) 0.75
Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. Am J Hum Genet (2016) 0.75
Evaluating the Calibration and Power of Three Gene-Based Association Tests of Rare Variants for the X Chromosome. Genet Epidemiol (2015) 0.75
Insights into blood lipids from rare variant discovery. Curr Opin Genet Dev (2015) 0.75
Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer. Cancer Epidemiol Biomarkers Prev (2016) 0.75
Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet (2006) 115.71
A haplotype map of the human genome. Nature (2005) 105.70
A method and server for predicting damaging missense mutations. Nat Methods (2010) 78.53
An integrated encyclopedia of DNA elements in the human genome. Nature (2012) 64.73
Genomic control for association studies. Biometrics (1999) 64.39
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet (2007) 52.68
SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res (2003) 52.26
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62
Common SNPs explain a large proportion of the heritability for human height. Nat Genet (2010) 35.02
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10
Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet (2008) 26.79
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
The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups. Nature (2012) 20.47
A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet (2009) 19.64
Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet (2011) 18.88
A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am J Hum Genet (2009) 17.80
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
Variance component model to account for sample structure in genome-wide association studies. Nat Genet (2010) 15.52
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. Genome Res (2009) 14.90
Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet (2010) 14.81
Genotype imputation for genome-wide association studies. Nat Rev Genet (2010) 14.59
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet (2010) 13.18
Five years of GWAS discovery. Am J Hum Genet (2012) 12.97
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Annotation of functional variation in personal genomes using RegulomeDB. Genome Res (2012) 11.47
Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet (2012) 11.29
The mystery of missing heritability: Genetic interactions create phantom heritability. Proc Natl Acad Sci U S A (2012) 11.23
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol (2010) 10.54
Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet (2010) 9.53
Testing for an unusual distribution of rare variants. PLoS Genet (2011) 9.28
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature (2012) 8.10
New approaches to population stratification in genome-wide association studies. Nat Rev Genet (2010) 7.97
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science (2012) 7.94
A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST). Mutat Res (2006) 7.89
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nat Genet (2010) 7.08
Rare and common variants: twenty arguments. Nat Rev Genet (2012) 6.67
Genome-wide efficient mixed-model analysis for association studies. Nat Genet (2012) 6.62
Powerful SNP-set analysis for case-control genome-wide association studies. Am J Hum Genet (2010) 6.60
FaST linear mixed models for genome-wide association studies. Nat Methods (2011) 6.52
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat Rev Genet (2011) 6.52
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet (2012) 6.15
A data-adaptive sum test for disease association with multiple common or rare variants. Hum Hered (2010) 5.95
Power of deep, all-exon resequencing for discovery of human trait genes. Proc Natl Acad Sci U S A (2009) 5.61
Rare variant association analysis methods for complex traits. Annu Rev Genet (2010) 5.59
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet (2011) 5.58
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
Promise and pitfalls of the Immunochip. Arthritis Res Ther (2011) 5.38
Low-coverage sequencing: implications for design of complex trait association studies. Genome Res (2011) 5.34
Differential confounding of rare and common variants in spatially structured populations. Nat Genet (2012) 5.28
Optimal tests for rare variant effects in sequencing association studies. Biostatistics (2012) 4.69
Genome-wide association studies in diverse populations. Nat Rev Genet (2010) 4.68
A general framework for detecting disease associations with rare variants in sequencing studies. Am J Hum Genet (2011) 4.52
Characterizing and measuring bias in sequence data. Genome Biol (2013) 4.39
Asymptotic tests of association with multiple SNPs in linkage disequilibrium. Genet Epidemiol (2009) 3.96
Meta-analysis of genome-wide association studies: no efficiency gain in using individual participant data. Genet Epidemiol (2010) 3.84
De novo mutations in human genetic disease. Nat Rev Genet (2012) 3.81
A novel adaptive method for the analysis of next-generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions. PLoS Genet (2010) 3.78
Extending rare-variant testing strategies: analysis of noncoding sequence and imputed genotypes. Am J Hum Genet (2010) 3.47
Searching for missing heritability: designing rare variant association studies. Proc Natl Acad Sci U S A (2014) 3.47
Comparison of statistical tests for disease association with rare variants. Genet Epidemiol (2011) 3.42
Meta-analysis in genome-wide association studies. Pharmacogenomics (2009) 3.39
A probabilistic disease-gene finder for personal genomes. Genome Res (2011) 3.23
Random-effects model aimed at discovering associations in meta-analysis of genome-wide association studies. Am J Hum Genet (2011) 3.21
A new testing strategy to identify rare variants with either risk or protective effect on disease. PLoS Genet (2011) 3.13
Improved linear mixed models for genome-wide association studies. Nat Methods (2012) 3.09
SNP detection and genotyping from low-coverage sequencing data on multiple diploid samples. Genome Res (2010) 2.97
Comprehensive approach to analyzing rare genetic variants. PLoS One (2010) 2.93
ContEst: estimating cross-contamination of human samples in next-generation sequencing data. Bioinformatics (2011) 2.90
Sequence kernel association test for quantitative traits in family samples. Genet Epidemiol (2012) 2.82
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature (2013) 2.79
Beyond GWASs: illuminating the dark road from association to function. Am J Hum Genet (2013) 2.67
Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. PLoS One (2013) 2.65
Whole-genome sequence-based analysis of high-density lipoprotein cholesterol. Nat Genet (2013) 2.62
Meta-analysis methods for genome-wide association studies and beyond. Nat Rev Genet (2013) 2.58
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat Genet (2012) 2.55
Transethnic meta-analysis of genomewide association studies. Genet Epidemiol (2011) 2.53
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies. Nat Genet (2012) 2.50
Functional annotation of noncoding sequence variants. Nat Methods (2014) 2.41
A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer. Nat Genet (2012) 2.29
Methodological challenges of genome-wide association analysis in Africa. Nat Rev Genet (2010) 2.27
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet (2012) 2.14
SNP set association analysis for familial data. Genet Epidemiol (2012) 2.08
Meta-analysis of gene-level tests for rare variant association. Nat Genet (2013) 1.99
Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. Am J Hum Genet (2012) 1.94
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes. Nat Genet (2014) 1.92
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet (2014) 1.86
General framework for meta-analysis of rare variants in sequencing association studies. Am J Hum Genet (2013) 1.86
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature (2013) 1.79
Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants. Genet Epidemiol (2011) 1.78