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151 Result(s)
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Article
Open AccessStrength of selection in lung tumors correlates with clinical features better than tumor mutation burden
Single nucleotide substitutions are the most common type of somatic mutations in cancer genome. The goal of this study was to use publicly available somatic mutation data to quantify negative and positive sele...
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Open AccessSomatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients
Esophageal adenocarcinoma is the most common histological subtype of esophageal cancer in Western countries and shows poor prognosis with rapid growth. EAC is characterized by a strong male predominance and ra...
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Open AccessClonal gene signatures predict prognosis in mesothelioma and lung adenocarcinoma
Malignant pleural mesothelioma (MPM) is a rare but lethal pleural cancer with high intratumor heterogeneity (ITH). A recent study in lung adenocarcinoma has developed a clonal gene signature (ORACLE) from mult...
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Open AccessImpact of individual level uncertainty of lung cancer polygenic risk score (PRS) on risk stratification
Although polygenic risk score (PRS) has emerged as a promising tool for predicting cancer risk from genome-wide association studies (GWAS), the individual-level accuracy of lung cancer PRS and the extent to wh...
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Open AccessA comprehensive analysis of lung cancer highlighting epidemiological factors and psychiatric comorbidities from the All of Us Research Program
Lung cancer is the leading cause of cancer-related mortality in the United States. Investigating epidemiological and clinical parameters can contribute to an improved understanding of disease development and m...
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Open AccessGenome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population
Lung adenocarcinoma is the most common type of lung cancer. Known risk variants explain only a small fraction of lung adenocarcinoma heritability. Here, we conducted a two-stage genome-wide association study o...
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Open AccessMultitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis
Primary sclerosing cholangitis (PSC) is a rare autoimmune bile duct disease that is strongly associated with immune-mediated disorders. In this study, we implemented multitrait joint analyses to genome-wide as...
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Open AccessDisentangling the aetiological pathways between body mass index and site-specific cancer risk using tissue-partitioned Mendelian randomisation
Body mass index (BMI) is known to influence the risk of various site-specific cancers, however, dissecting which subcomponents of this heterogenous risk factor are predominantly responsible for driving disease...
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A combination of intrinsic and extrinsic features improves prognostic prediction in malignant pleural mesothelioma
Malignant pleural mesothelioma (MPM) is a lung pleural cancer with very poor disease outcome. With limited curative MPM treatment available, it is vital to study prognostic biomarkers to categorise different p...
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Article
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis
Rheumatoid arthritis (RA) is a highly heritable complex disease with unknown etiology. Multi-ancestry genetic research of RA promises to improve power to detect genetic signals, fine-map** resolution and per...
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Article
Linkage Disequilibrium Score Statistic Regression for Identifying Novel Trait Associations
In this paper, we review the linkage disequilibrium score regression (LDSR) statistical method for computing correlation and shared heritability between complex polygenetic traits.
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Cross-ancestry genome-wide meta-analysis of 61,047 cases and 947,237 controls identifies new susceptibility loci contributing to lung cancer
To identify new susceptibility loci to lung cancer among diverse populations, we performed cross-ancestry genome-wide association studies in European, East Asian and African populations and discovered five loc...
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Open AccessDeciphering associations between three RNA splicing-related genetic variants and lung cancer risk
Limited efforts have been made in assessing the effect of genome-wide profiling of RNA splicing-related variation on lung cancer risk. In the present study, we first identified RNA splicing-related genetic var...
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Article
Differences in COVID-19-Related Testing and Healthcare Utilization by Race and Ethnicity in the Veterans Health Administration
Recent reports indicate differences in COVID-19-related care and outcomes between Black and White Americans.
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Open AccessGenetic variants associated mRNA stability in lung
Expression quantitative trait loci (eQTLs) analyses have been widely used to identify genetic variants associated with gene expression levels to understand what molecular mechanisms underlie genetic traits. Th...
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Open AccessShared genomic architecture between COVID-19 severity and numerous clinical and physiologic parameters revealed by LD score regression analysis
The COVID-19 pandemic has produced broad clinical manifestations, from asymptomatic infection to hospitalization and death. Despite progress from genomic and clinical epidemiology research, risk factors for de...
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Article
SNP characteristics and validation success in genome wide association studies
Genome wide association studies (GWASs) have identified tens of thousands of single nucleotide polymorphisms (SNPs) associated with human diseases and characteristics. A significant fraction of GWAS findings c...
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Open AccessGene–gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer
Aberrant Wnt signalling, regulating cell development and stemness, influences the development of many cancer types. The Aryl hydrocarbon receptor (AhR) mediates tumorigenesis of environmental pollutants. Complex ...
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Open AccessA lepidic gene signature predicts patient prognosis and sensitivity to immunotherapy in lung adenocarcinoma
Lung adenocarcinoma, the most common type of lung cancer, has a high level of morphologic heterogeneity and is composed of tumor cells of multiple histological subtypes. It has been reported that immune cell i...
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Open AccessCirculating inflammatory cytokines and risk of five cancers: a Mendelian randomization analysis
Epidemiological and experimental evidence has linked chronic inflammation to cancer aetiology. It is unclear whether associations for specific inflammatory biomarkers are causal or due to bias. In order to exa...