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85.39
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20.35
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3
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Genome-wide detection and characterization of positive selection in human populations.
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Nature
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17.27
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4
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Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.
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Nat Genet
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2008
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9.39
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5
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SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.
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Nat Genet
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8.63
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6
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Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.
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Nat Genet
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8.11
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7
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Complete sequencing and characterization of 21,243 full-length human cDNAs.
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Nat Genet
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7.98
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8
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Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis.
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Nat Genet
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2003
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7.04
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9
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Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
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Nat Genet
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2008
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6.75
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10
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Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction.
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Nat Genet
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2002
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6.46
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11
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Heterozygous TGFBR2 mutations in Marfan syndrome.
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Nat Genet
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2004
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6.15
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12
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Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease.
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Hum Mol Genet
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2005
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5.35
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13
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A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.
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Nat Genet
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5.29
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14
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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
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Nat Genet
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2007
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4.99
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15
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Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators.
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Nat Genet
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16
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Nat Cell Biol
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4.72
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17
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An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis.
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Nat Genet
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2003
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4.61
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18
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Genome-wide association study of hematological and biochemical traits in a Japanese population.
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Nat Genet
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4.36
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19
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A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.
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Nat Genet
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HJURP is a cell-cycle-dependent maintenance and deposition factor of CENP-A at centromeres.
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3.94
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Seven new loci associated with age-related macular degeneration.
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Genomewide association between GLCCI1 and response to glucocorticoid therapy in asthma.
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Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
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Recognition of hemi-methylated DNA by the SRA protein UHRF1 by a base-flipping mechanism.
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Significant effect of polymorphisms in CYP2D6 and ABCC2 on clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients.
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Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.
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Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.
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3.19
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Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma.
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3.19
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Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
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3.18
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31
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A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities.
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3.15
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New gene functions in megakaryopoiesis and platelet formation.
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Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.
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Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.
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3.04
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Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
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36
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Genome-wide associations and functional genomic studies of musculoskeletal adverse events in women receiving aromatase inhibitors.
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3.02
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An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis.
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3.00
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Amino acid substitution in hepatitis C virus core region and genetic variation near the interleukin 28B gene predict viral response to telaprevir with peginterferon and ribavirin.
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Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population.
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Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer.
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A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.
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Glypican-3, overexpressed specifically in human hepatocellular carcinoma, is a novel tumor marker.
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ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.
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DKK1, a negative regulator of Wnt signaling, is a target of the beta-catenin/TCF pathway.
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Meta-analysis identifies common variants associated with body mass index in east Asians.
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Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction.
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A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.
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Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
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ICBP90, an E2F-1 target, recruits HDAC1 and binds to methyl-CpG through its SRA domain.
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2.30
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52
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A SNP in the ABCC11 gene is the determinant of human earwax type.
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A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.
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Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses.
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Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population.
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Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing.
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Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
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A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.
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Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population.
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Validation of the histone methyltransferase EZH2 as a therapeutic target for various types of human cancer and as a prognostic marker.
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Identification of CAG repeat-containing genes expressed in human brain as candidate genes for autosomal dominant spinocerebellar ataxias and other neurodegenerative diseases.
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