15 Result(s)
within
Christian Benner
English
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Article
Open AccessPlasma proteomic associations with genetics and health in the UK Biobank
The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we provide a detailed summary of this initiat...
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An effector index to predict target genes at GWAS loci
Drug development and biological discovery require effective strategies to map existing genetic associations to causal genes. To approach this problem, we selected 12 common diseases and quantitative traits for...
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Open AccessPopulation-scale analysis of common and rare genetic variation associated with hearing loss in adults
To better understand the genetics of hearing loss, we performed a genome-wide association meta-analysis with 125,749 cases and 469,497 controls across five cohorts. We identified 53/c loci affecting hearing lo...
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Map** genomic loci implicates genes and synaptic biology in schizophrenia
Schizophrenia has a heritability of 60–80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 con...
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Open AccessGenome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles
Migraine affects over a billion individuals worldwide but its genetic underpinning remains largely unknown. Here, we performed a genome-wide association study of 102,084 migraine cases and 771,257 controls and...
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Author Correction: Genetics of 35 blood and urine biomarkers in the UK Biobank
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Open AccessExome sequencing and analysis of 454,787 UK Biobank participants
A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing1 to explore protein-altering ...
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Computationally efficient whole-genome regression for quantitative and binary traits
Genome-wide association analysis of cohorts with thousands of phenotypes is computationally expensive, particularly when accounting for sample relatedness or population structure. Here we present a novel machi...
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Genome-wide association meta-analysis of nicotine metabolism and cigarette consumption measures in smokers of European descent
Smoking behaviors, including amount smoked, smoking cessation, and tobacco-related diseases, are altered by the rate of nicotine clearance. Nicotine clearance can be estimated using the nicotine metabolite rat...
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Genetics of 35 blood and urine biomarkers in the UK Biobank
Clinical laboratory tests are a critical component of the continuum of care. We evaluate the genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n = 363,228 individuals). We identify 5,...
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Article
Functionally informed fine-map** and polygenic localization of complex trait heritability
Fine-map** aims to identify causal variants impacting complex traits. We propose PolyFun, a computationally scalable framework to improve fine-map** accuracy by leveraging functional annotations across the...
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Interrogation of human hematopoiesis at single-cell and single-variant resolution
Widespread linkage disequilibrium and incomplete annotation of cell-to-cell state variation represent substantial challenges to elucidating mechanisms of trait-associated genetic variation. Here we perform gen...
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Non-operative meningiomas: long-term follow-up of 136 patients
Improving access to neuroradiology investigations has led to an increased rate of diagnosis of incidental meningiomas.
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Diffusion tensor magnetic resonance imaging for predicting the consistency of intracranial meningiomas
The ability of preoperative MRI-sequences to predict the consistency of intracranial meningiomas has not yet been clearly defined. We aim to demonstrate that diffusion tensor imaging (DTI) improves the predict...
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Open AccessRelevance of PTEN loss in brain metastasis formation in breast cancer patients
With the improvement of therapeutic options for the treatment of breast cancer, the development of brain metastases has become a major limitation to life expectancy in many patients. Therefore, our aim was to ...
