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Concept
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Genome-Wide Association Study
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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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Population-specific GSTM1 copy number variation.
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Academic Article
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Finding the missing heritability of complex diseases.
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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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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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Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases?
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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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Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium.
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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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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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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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On sharing quantitative trait GWAS results in an era of multiple-omics data and the limits of genomic privacy.
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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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Comprehensive evaluation of the contribution of X chromosome genes to platinum sensitivity.
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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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Copy number polymorphisms and anticancer pharmacogenomics.
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Academic Article
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Next generation analytic tools for large scale genetic epidemiology studies of complex diseases.
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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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Identification of Diabetic Retinopathy Genes through a Genome-Wide Association Study among Mexican-Americans from Starr County, Texas.
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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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Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies.
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Academic Article
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Germline polymorphisms discovered via a cell-based, genome-wide approach predict platinum response in head and neck cancers.
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Academic Article
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Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals.
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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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Cancer pharmacogenomics: strategies and challenges.
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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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An exponential combination procedure for set-based association tests in sequencing studies.
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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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A genome-wide integrative study of microRNAs in human liver.
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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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SCAN: a systems biology approach to pharmacogenomic discovery.
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Academic Article
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Genome-wide interrogation of longitudinal FEV1 in children with asthma.
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Academic Article
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Integrative analyses of genetic variation, epigenetic regulation, and the transcriptome to elucidate the biology of platinum sensitivity.
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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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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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Genome-wide association studies in pharmacogenomics: successes and lessons.
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Academic Article
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The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.
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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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Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
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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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Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.
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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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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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Quantitative allelic test--a fast test for very large association studies.
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Academic Article
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Identifying plausible genetic models based on association and linkage results: application to type 2 diabetes.
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Academic Article
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Chemotherapy-induced peripheral neurotoxicity and ototoxicity: new paradigms for translational genomics.
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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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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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A genome-wide sib-pair scan for quantitative language traits reveals linkage to chromosomes 10 and 13.
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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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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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Pharmacogenomic variants have larger effect sizes than genetic variants associated with other dichotomous complex traits.
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Academic Article
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The genetic architecture of type 2 diabetes.
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Academic Article
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STAMS: STRING-assisted module search for genome wide association studies and application to autism.
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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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Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.
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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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Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
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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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Up For A Challenge (U4C): Stimulating innovation in breast cancer genetic epidemiology.
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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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Sex-specific genetic predictors of Alzheimer's disease biomarkers.
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Academic Article
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Critical Evaluation of Data Requires Rigorous but Broadly Based Statistical Inference.
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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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A Bayesian framework that integrates multi-omics data and gene networks predicts risk genes from schizophrenia GWAS data.
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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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Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
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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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Genetic risk for major depressive disorder and loneliness in sex-specific associations with coronary artery disease.
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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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Synaptic processes and immune-related pathways implicated in Tourette syndrome.
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Academic Article
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Alcohol and cigarette smoking consumption as genetic proxies for alcohol misuse and nicotine dependence.
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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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High-throughput framework for genetic analyses of adverse drug reactions using electronic health records.
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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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Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults.
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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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Pharmacogenomics of cisplatin-induced neurotoxicities: Hearing loss, tinnitus, and peripheral sensory neuropathy.
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Academic Article
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Two polymorphic gene loci associated with treprostinil dose in pulmonary arterial hypertension.
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Academic Article
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Sex differences in the genetic architecture of cognitive resilience to Alzheimer's disease.
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Academic Article
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Improving the computation efficiency of polygenic risk score modeling: faster in Julia.
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Academic Article
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Association of Genetically Predicted Fibroblast Growth Factor-23 with Heart Failure: A Mendelian Randomization Study.
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Academic Article
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Discerning asthma endotypes through comorbidity mapping.
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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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Cross-talks between gut microbiota and tobacco smoking: a two-sample Mendelian randomization study.
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Academic Article
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Genetic Variants Associated With Hidradenitis Suppurativa.
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Academic Article
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Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19.
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Academic Article
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Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing.
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Academic Article
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The high-dimensional space of human diseases built from diagnosis records and mapped to genetic loci.
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Academic Article
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Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI.
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Academic Article
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Determinants of mosaic chromosomal alteration fitness.
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Academic Article
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Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes.
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Academic Article
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Genetic determinants and phenotypic consequences of blood T-cell proportions in 207,000 diverse individuals.
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