| Item Type | Name |
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Concept
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Polymorphism, Single Nucleotide
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Academic Article
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Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations.
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Academic Article
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A statistical method for identification of polymorphisms that explain a linkage result.
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Academic Article
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Methods for analysis and visualization of SNP genotype data for complex diseases.
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Academic Article
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Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population.
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Academic Article
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Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus.
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Academic Article
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Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33.
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Academic Article
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Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene.
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Academic Article
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Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder.
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Academic Article
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Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses.
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Academic Article
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Coverage and characteristics of the Affymetrix GeneChip Human Mapping 100K SNP set.
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Academic Article
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Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects.
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Academic Article
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SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report.
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Academic Article
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Gene-based SNP mapping of a psychotic bipolar affective disorder linkage region on 22q12.3: association with HMG2L1 and TOM1.
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Academic Article
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Interpreting P values in pharmacogenetic studies: a call for process and perspective.
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Academic Article
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Evaluation of genetic variation contributing to differences in gene expression between populations.
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Academic Article
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Population-specific GSTM1 copy number variation.
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Academic Article
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SNPinProbe_1.0: a database for filtering out probes in the Affymetrix GeneChip human exon 1.0 ST array potentially affected by SNPs.
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Academic Article
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Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans.
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Academic Article
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Identification of genetic variants and gene expression relationships associated with pharmacogenes in humans.
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Academic Article
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Expression and alternative splicing of folate pathway genes in HapMap lymphoblastoid cell lines.
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Academic Article
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Identification of common genetic variants that account for transcript isoform variation between human populations.
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Academic Article
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The neutrophil alloantigen HNA-3a (5b) is located on choline transporter-like protein 2 and appears to be encoded by an R>Q154 amino acid substitution.
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Academic Article
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The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population.
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Academic Article
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Common polymorphisms of calpain-10 are associated with abdominal obesity in subjects at high risk of type 2 diabetes.
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Academic Article
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Fine mapping and positional candidate studies on chromosome 5p13 identify multiple asthma susceptibility loci.
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Academic Article
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SCAN: SNP and copy number annotation.
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Academic Article
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Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS.
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Academic Article
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Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci.
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Academic Article
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Spoiling the whole bunch: quality control aimed at preserving the integrity of high-throughput genotyping.
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Academic Article
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Genetic variations in GRIA1 on chromosome 5q33 related to asparaginase hypersensitivity.
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Academic Article
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Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia.
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Academic Article
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The missing association: sequencing-based discovery of novel SNPs in VKORC1 and CYP2C9 that affect warfarin dose in African Americans.
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Academic Article
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Population differences in microRNA expression and biological implications.
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Academic Article
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Platinum sensitivity-related germline polymorphism discovered via a cell-based approach and analysis of its association with outcome in ovarian cancer patients.
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Academic Article
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Lack of association between common single nucleotide polymorphisms in the TERT-CLPTM1L locus and breast cancer in women of African ancestry.
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Academic Article
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Genome-wide meta-analysis for severe diabetic retinopathy.
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Academic Article
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Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry.
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Academic Article
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Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue.
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Academic Article
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Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium.
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Academic Article
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The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy.
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Academic Article
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Genome-wide ancestry association testing identifies a common European variant on 6q14.1 as a risk factor for asthma in African American subjects.
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Academic Article
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Replication analysis for severe diabetic retinopathy.
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Academic Article
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Re: CYP2D6 genotype and tamoxifen response in postmenopausal women with endocrine-responsive breast cancer: the Breast International Group 1-98 trial.
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Academic Article
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Genetic risk factors for type 2 diabetes: a trans-regulatory genetic architecture?
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Academic Article
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Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism.
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Academic Article
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Mixed effects modeling of proliferation rates in cell-based models: consequence for pharmacogenomics and cancer.
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Academic Article
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Genetic architecture of transcript-level variation in humans.
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Academic Article
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PACdb: a database for cell-based pharmacogenomics.
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Academic Article
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Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas.
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Academic Article
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Power and sample size calculations for SNP association studies with censored time-to-event outcomes.
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Academic Article
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Clinical translation of cell-based pharmacogenomic discovery.
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Academic Article
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Copy number polymorphisms and anticancer pharmacogenomics.
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Academic Article
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Variants affecting exon skipping contribute to complex traits.
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Academic Article
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Concordant gene expression in leukemia cells and normal leukocytes is associated with germline cis-SNPs.
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Academic Article
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FstSNP-HapMap3: a database of SNPs with high population differentiation for HapMap3.
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Academic Article
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Genome-wide association study to identify novel loci associated with therapy-related myeloid leukemia susceptibility.
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Academic Article
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A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose.
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Academic Article
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Comprehensive survey of SNPs in the Affymetrix exon array using the 1000 Genomes dataset.
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Academic Article
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Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from the International Association of Diabetes and Pregnancy Study Groups.
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Academic Article
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A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.
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Academic Article
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The use of genomic information to optimize cancer chemotherapy.
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Academic Article
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Identification of novel germline polymorphisms governing capecitabine sensitivity.
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Academic Article
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A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity.
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Academic Article
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Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies.
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Academic Article
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Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism.
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Academic Article
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Reconstructability analysis as a tool for identifying gene-gene interactions in studies of human diseases.
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Academic Article
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Genome-wide local ancestry approach identifies genes and variants associated with chemotherapeutic susceptibility in African Americans.
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Academic Article
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Genetic architecture of microRNA expression: implications for the transcriptome and complex traits.
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Academic Article
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Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.
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Academic Article
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Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants.
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Academic Article
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Integration of cell line and clinical trial genome-wide analyses supports a polygenic architecture of Paclitaxel-induced sensory peripheral neuropathy.
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Academic Article
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Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers.
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Academic Article
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Genome-wide association study of Tourette's syndrome.
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Academic Article
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Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations.
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Academic Article
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A genome-wide association study of breast cancer in women of African ancestry.
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Academic Article
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Network models of genome-wide association studies uncover the topological centrality of protein interactions in complex diseases.
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Academic Article
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Comprehensive genetic analysis of cytarabine sensitivity in a cell-based model identifies polymorphisms associated with outcome in AML patients.
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Academic Article
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Genome-wide association study of obsessive-compulsive disorder.
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Academic Article
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Trans-population analysis of genetic mechanisms of ethnic disparities in neuroblastoma survival.
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Academic Article
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A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk.
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Academic Article
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A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.
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Academic Article
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Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.
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Academic Article
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Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes.
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Academic Article
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Genetic association signal near NTN4 in Tourette syndrome.
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Academic Article
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Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.
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Academic Article
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Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of Pazopanib.
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Academic Article
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Structural architecture of SNP effects on complex traits.
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Academic Article
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Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait.
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Academic Article
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Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.
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Academic Article
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Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
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Academic Article
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Genome-wide identification of microRNA expression quantitative trait loci.
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Academic Article
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SCAN database: facilitating integrative analyses of cytosine modification and expression QTL.
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Academic Article
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Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.
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Academic Article
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Obesity-associated variants within FTO form long-range functional connections with IRX3.
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Academic Article
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Integrating cell-based and clinical genome-wide studies to identify genetic variants contributing to treatment failure in neuroblastoma patients.
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Academic Article
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Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder.
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Academic Article
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Genome wide association studies for diabetes: perspective on results and challenges.
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Academic Article
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Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
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Academic Article
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Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver.
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Academic Article
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A gene-based association method for mapping traits using reference transcriptome data.
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Academic Article
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Ethnic variation of TET2 SNP rs2454206 and association with clinical outcome in childhood AML: a report from the Children's Oncology Group.
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Academic Article
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Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.
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Academic Article
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A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology.
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Academic Article
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Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms.
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Academic Article
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Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues.
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Academic Article
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Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity.
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Academic Article
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Genome-wide association studies in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer.
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Academic Article
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Admixture mapping in two Mexican samples identifies significant associations of locus ancestry with triglyceride levels in the BUD13/ZNF259/APOA5 region and fine mapping points to rs964184 as the main driver of the association signal.
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Academic Article
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Clinical and Genome-Wide Analysis of Cisplatin-Induced Peripheral Neuropathy in Survivors of Adult-Onset Cancer.
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Academic Article
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Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record.
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Academic Article
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Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation.
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Academic Article
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Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics.
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Academic Article
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Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma.
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Academic Article
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An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.
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Academic Article
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LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins.
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Academic Article
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Evidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping.
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Academic Article
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Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies.
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Academic Article
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Gene expression imputation across multiple brain regions provides insights into schizophrenia risk.
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Academic Article
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Clinical and Genome-wide Analysis of Cisplatin-induced Tinnitus Implicates Novel Ototoxic Mechanisms.
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Academic Article
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Multi-tissue transcriptome analyses identify genetic mechanisms underlying neuropsychiatric traits.
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Academic Article
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Sex differences in the genetic predictors of Alzheimer's pathology.
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Academic Article
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Combining clinical and candidate gene data into a risk score for azathioprine-associated leukopenia in routine clinical practice.
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Academic Article
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Clinical evaluation of germline polymorphisms associated with capecitabine toxicity in breast cancer: TBCRC-015.
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Academic Article
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Genetic variants and functional pathways associated with resilience to Alzheimer's disease.
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Academic Article
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A Transcriptome-Wide Association Study Identifies Candidate Susceptibility Genes for Pancreatic Cancer Risk.
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Academic Article
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PheMap: a multi-resource knowledge base for high-throughput phenotyping within electronic health records.
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Academic Article
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Host genetic effects in pneumonia.
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Academic Article
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Fate or coincidence: do COPD and major depression share genetic risk factors?
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Academic Article
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Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis.
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Academic Article
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Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients.
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Academic Article
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Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies.
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Academic Article
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A transcriptome-wide association study identifies novel blood-based gene biomarker candidates for Alzheimer's disease risk.
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Academic Article
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A transcriptome-wide association study of Alzheimer's disease using prediction models of relevant tissues identifies novel candidate susceptibility genes.
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Academic Article
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A transcriptome-wide association study identifies novel candidate susceptibility genes for prostate cancer risk.
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Academic Article
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Discovery and implications of polygenicity of common diseases.
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Academic Article
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Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program.
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Academic Article
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Integration of DNA sequencing with population pharmacokinetics to improve the prediction of irinotecan exposure in cancer patients.
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Academic Article
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Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries.
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Academic Article
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Genome-wide association analyses of common infections in a large practice-based biobank.
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Academic Article
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Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome.
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Academic Article
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Cross-talks between gut microbiota and tobacco smoking: a two-sample Mendelian randomization study.
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Academic Article
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Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.
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