Published in Bioinformatics on July 27, 2012
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Illumina human exome genotyping array clustering and quality control. Nat Protoc (2014) 1.14
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. Nat Genet (2014) 1.10
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Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. Nat Genet (2015) 0.95
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Rare and low-frequency coding variants alter human adult height. Nature (2017) 0.85
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Comparison of genotype clustering tools with rare variants. BMC Bioinformatics (2014) 0.81
GRID2 a novel gene possibly associated with mevalonate kinase deficiency. Rheumatol Int (2014) 0.81
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Genome-wide association study of response to cognitive-behavioural therapy in children with anxiety disorders. Br J Psychiatry (2016) 0.78
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The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis. Genes Immun (2015) 0.77
Low-frequency coding variants at 6p21.33 and 20q11.21 are associated with lung cancer risk in Chinese populations. Am J Hum Genet (2015) 0.77
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Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk. Hum Mol Genet (2016) 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
KRLMM: an adaptive genotype calling method for common and low frequency variants. BMC Bioinformatics (2014) 0.75
Quality Control for the Illumina HumanExome BeadChip. Curr Protoc Hum Genet (2016) 0.75
Genome-Wide Association of Heroin Dependence in Han Chinese. PLoS One (2016) 0.75
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M(3)-S: a genotype calling method incorporating information from samples with known genotypes. BMC Bioinformatics (2015) 0.75
Exome chip analyses in adult attention deficit hyperactivity disorder. Transl Psychiatry (2016) 0.75
A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans. BMC Endocr Disord (2016) 0.75
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Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. Nat Commun (2017) 0.75
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet (2017) 0.75
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Five years of GWAS discovery. Am J Hum Genet (2012) 12.97
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. Mol Psychiatry (2012) 2.09
optiCall: a robust genotype-calling algorithm for rare, low-frequency and common variants. Bioinformatics (2012) 1.62
Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips. BMC Bioinformatics (2011) 1.45
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Finding the missing heritability of complex diseases. Nature (2009) 67.95
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PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet (2003) 53.59
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
The structure of haplotype blocks in the human genome. Science (2002) 50.88
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Genome-wide association studies for common diseases and complex traits. Nat Rev Genet (2005) 33.96
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature (2009) 33.26
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
The landscape of somatic copy-number alteration across human cancers. Nature (2010) 31.88
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet (2008) 30.20
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science (2006) 27.49
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol (2009) 27.17
Efficiency and power in genetic association studies. Nat Genet (2005) 25.56
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature (2005) 23.04
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet (2007) 19.08
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Multiple loci identified in a genome-wide association study of prostate cancer. Nat Genet (2008) 17.65
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
Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med (2007) 17.06
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
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
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet (2006) 15.63
Genetic mapping in human disease. Science (2008) 15.12
Calibrating a coalescent simulation of human genome sequence variation. Genome Res (2005) 15.04
Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet (2006) 14.76
Genes that act downstream of DAF-16 to influence the lifespan of Caenorhabditis elegans. Nature (2003) 14.49
New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet (2007) 13.76
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
Practical aspects of imputation-driven meta-analysis of genome-wide association studies. Hum Mol Genet (2008) 13.26
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study. Lancet (2009) 12.96
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Efficient control of population structure in model organism association mapping. Genetics (2008) 12.32
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet (2008) 12.07
Methods for high-density admixture mapping of disease genes. Am J Hum Genet (2004) 12.02
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol (2008) 11.28
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet (2008) 10.49
The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. Science (2010) 9.61
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
Testing for an unusual distribution of rare variants. PLoS Genet (2011) 9.28
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet (2007) 8.74
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
Integrative analysis of the melanoma transcriptome. Genome Res (2010) 8.46
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet (2009) 8.39
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
Molecular genetics of attention-deficit/hyperactivity disorder. Biol Psychiatry (2005) 7.94