Search Results - "Chanock, Stephen J"
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LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants
Published in Bioinformatics (01-11-2015)“…Assessing linkage disequilibrium (LD) across ancestral populations is a powerful approach for investigating population-specific genetic structure as well as…”
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LDassoc: an online tool for interactively exploring genome-wide association study results and prioritizing variants for functional investigation
Published in Bioinformatics (01-03-2018)“…Abstract Motivation Existing approaches to plot association results from genome-wide association studies (GWAS) are in the form of static Manhattan plots and…”
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LDlinkR : An R Package for Rapidly Calculating Linkage Disequilibrium Statistics in Diverse Populations
Published in Frontiers in genetics (28-02-2020)“…Genomic research involving human genetics and evolutionary biology relies heavily on linkage disequilibrium (LD) to investigate population-specific genetic…”
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Estimation of effect size distribution from genome-wide association studies and implications for future discoveries
Published in Nature genetics (01-07-2010)“…Nilanjan Chatterjee and colleagues report an analysis of the number and effect size distribution of susceptibility variants identified from current genome-wide…”
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Burden of Nonsynonymous Mutations among TCGA Cancers and Candidate Immune Checkpoint Inhibitor Responses
Published in Cancer research (Chicago, Ill.) (01-07-2016)“…Immune checkpoint inhibitor treatment represents a promising approach toward treating cancer and has been shown to be effective in a subset of melanoma,…”
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Powerful SNP-Set Analysis for Case-Control Genome-wide Association Studies
Published in American journal of human genetics (11-06-2010)“…GWAS have emerged as popular tools for identifying genetic variants that are associated with disease risk. Standard analysis of a case-control GWAS involves…”
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A Subset-Based Approach Improves Power and Interpretation for the Combined Analysis of Genetic Association Studies of Heterogeneous Traits
Published in American journal of human genetics (04-05-2012)“…Pooling genome-wide association studies (GWASs) increases power but also poses methodological challenges because studies are often heterogeneous. For example,…”
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Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma
Published in Nature genetics (01-05-2014)“…Maria Teresa Landi and colleagues identify a rare missense variant in POT1 shared by five melanoma-prone families from Italy and associated with increased…”
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Colorectal cancer susceptibility loci as predictive markers of rectal cancer prognosis after surgery
Published in Genes chromosomes & cancer (01-03-2018)“…To understand the molecular mechanism of rectal cancer and develop markers for disease prognostication, we generated and explored a dataset from 243 rectal…”
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Detectable clonal mosaicism from birth to old age and its relationship to cancer
Published in Nature genetics (01-06-2012)“…Cathy Laurie and colleagues detect mosaicism for large chromosomal abnormalities in peripheral blood in a subset of healthy individuals. They show that the…”
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GWASdb: a database for human genetic variants identified by genome-wide association studies
Published in Nucleic acids research (01-01-2012)“…Recent advances in genome-wide association studies (GWAS) have enabled us to identify thousands of genetic variants (GVs) that are associated with human…”
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Distribution of allele frequencies and effect sizes and their interrelationships for common genetic susceptibility variants
Published in Proceedings of the National Academy of Sciences - PNAS (01-11-2011)“…Recent discoveries of hundreds of common susceptibility SNPs from genome-wide association studies provide a unique opportunity to examine population genetic…”
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Population structure of human gut bacteria in a diverse cohort from rural Tanzania and Botswana
Published in Genome Biology (22-01-2019)“…Gut microbiota from individuals in rural, non-industrialized societies differ from those in individuals from industrialized societies. Here, we use 16S rRNA…”
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Interpretable, non-mechanistic forecasting using empirical dynamic modeling and interactive visualization
Published in PloS one (03-04-2023)“…Forecasting methods are notoriously difficult to interpret, particularly when the relationship between the data and the resulting forecasts is not obvious…”
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The case for increasing diversity in tissue-based functional genomics datasets to understand human disease susceptibility
Published in Nature communications (25-05-2022)“…Tissue-based functional genomics resources including molecular quantitative trait loci datasets lack diversity in ancestry and tissue types and thus are…”
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Genetically predicted telomere length is associated with clonal somatic copy number alterations in peripheral leukocytes
Published in PLoS genetics (22-10-2020)“…Telomeres are DNA-protein structures at the ends of chromosomes essential in maintaining chromosomal stability. Observational studies have identified…”
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Circulating adipokine concentrations and risk of five obesity‐related cancers: A Mendelian randomization study
Published in International journal of cancer (01-04-2021)“…Obesity is considered a chronic inflammatory state characterized by continued secretion of adipokines and cytokines. Experimental and epidemiological evidence…”
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Mosaic chromosome Y loss is associated with alterations in blood cell counts in UK Biobank men
Published in Scientific reports (27-02-2020)“…Mosaic loss of Y chromosome (mLOY) is the most frequently detected somatic copy number alteration in leukocytes of men. In this study, we investigate blood…”
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Constitutional telomerase mutations are genetic risk factors for cirrhosis
Published in Hepatology (Baltimore, Md.) (01-05-2011)“…Some patients with liver disease progress to cirrhosis, but the risk factors for cirrhosis development are unknown. Dyskeratosis congenita, an inherited bone…”
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C-Reactive Protein and Risk of Lung Cancer
Published in Journal of clinical oncology (01-06-2010)“…Chronic inflammation could play a role in lung carcinogenesis, underscoring the potential for lung cancer prevention and screening. We investigated the…”
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