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125 Result(s)
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Article
Open AccessAn ensemble penalized regression method for multi-ancestry polygenic risk prediction
Great efforts are being made to develop advanced polygenic risk scores (PRS) to improve the prediction of complex traits and diseases. However, most existing PRS are primarily trained on European ancestry popu...
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Principles and methods for transferring polygenic risk scores across global populations
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait or disease and may become a valuable tool for advancing precision medicine. However, PRSs that are developed in popula...
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Correction: Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes
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A new method for multiancestry polygenic prediction improves performance across diverse populations
Polygenic risk scores (PRSs) increasingly predict complex traits; however, suboptimal performance in non-European populations raise concerns about clinical applications and health inequities. We developed CT-S...
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Optimal distance to escape terrain of bharal in presence of livestock in Greater Himalayan alpine rangelands
Escape terrain is an integral component in species ecology for survival and predation avoidance, alongside other factors. For mountain ungulates, escape terrains are steep cliffs serving as refuge in case of p...
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Open AccessTranscriptome- and proteome-wide association studies nominate determinants of kidney function and damage
The pathophysiological causes of kidney disease are not fully understood. Here we show that the integration of genome-wide genetic, transcriptomic, and proteomic association studies can nominate causal determi...
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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 AccessPotential utility of risk stratification for multicancer screening with liquid biopsy tests
Our proof-of-concept study reveals the potential of risk stratification by the combined effects of age, polygenic risk scores (PRS), and non-genetic risk factors in increasing the risk-benefit balance of rapid...
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Open AccessOrigin of the Paleoproterozoic basaltic dikes from the central and eastern Dharwar Craton and sills and volcanics from the adjoining Cuddapah Basin, southern India
Reverse fractionation modeling considering energy-constrained assimilation-fractional crystallization is performed to estimate primary magma compositions, degree of crustal contamination, pressure–temperature ...
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Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes
Lymphoma risk is elevated for relatives with common non-Hodgkin lymphoma (NHL) subtypes, suggesting shared genetic susceptibility across subtypes. To evaluate the extent of mutual heritability among NHL subtyp...
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Polygenic scores in biomedical research
Public health strategies aimed at disease prevention or early detection and intervention have the potential to advance human health worldwide. However, their success depends on the identification of risk facto...
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Open AccessAggregative trans-eQTL analysis detects trait-specific target gene sets in whole blood
Large scale genetic association studies have identified many trait-associated variants and understanding the role of these variants in the downstream regulation of gene-expressions can uncover important mediat...
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Open AccessMeta-analysis under imbalance in measurement of confounders in cohort studies using only summary-level data
Cohort collaborations often require meta-analysis of exposure-outcome association estimates across cohorts as an alternative to pooling individual-level data that requires a laborious process of data harmoniza...
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Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies
Improved understanding of genetic regulation of the proteome can facilitate identification of the causal mechanisms for complex traits. We analyzed data on 4,657 plasma proteins from 7,213 European American (E...
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Open AccessCommon variants in breast cancer risk loci predispose to distinct tumor subtypes
Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how the...
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Large-scale plasma proteomic analysis identifies proteins and pathways associated with dementia risk
The plasma proteomic changes that precede the onset of dementia could yield insights into disease biology and highlight new biomarkers and avenues for intervention. We quantified 4,877 plasma proteins in nonde...
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Origin of the primitive, strongly SiO2-undersaturated alkalic rocks from the Deccan Traps by low-degree mantle melting and high-pressure fractional crystallization
Strongly SiO2-undersaturated alkalic rocks (Mg# > 50, SiO2 ≤ 45 wt%, Na2O + K2O ≥ 3 wt%) occur in three early-stage (Sarnu-Dandali, Mundwara, Bhuj) and one late-stage (Murud-Janjira) rift-associated volcanic comp...
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Improving reporting standards for polygenic scores in risk prediction studies
Polygenic risk scores (PRSs), which often aggregate results from genome-wide association studies, can bridge the gap between initial discovery efforts and clinical applications for the estimation of disease ri...
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Open AccessComparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort of women of European ancestry
The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) and the Tyrer-Cuzick breast cancer risk prediction models are commonly used in clinical practice and have recent...
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Individual and community-level risk for COVID-19 mortality in the United States
Reducing COVID-19 burden for populations will require equitable and effective risk-based allocations of scarce preventive resources, including vaccinations1. To aid in this effort, we developed a general populati...