Articles with "summary data" as a keyword



Transcriptome‐wide summary data‐based Mendelian randomization analysis reveals 38 novel genes associated with severe COVID‐19

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Published in 2022 at "Journal of Medical Virology"

DOI: 10.1002/jmv.28162

Abstract: Severe COVID‐19 has a poor prognosis, while the genetic mechanism underlying severe COVID‐19 remains largely unknown. We aimed to identify genes that are potentially causally associated with severe COVID‐19. We conducted a summary data‐based Mendelian… read more here.

Keywords: severe covid; covid; analysis; associated severe ... See more keywords

Powerful Test of Heterogeneity in Two‐Sample Summary‐Data Mendelian Randomization

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Published in 2024 at "Statistics in Medicine"

DOI: 10.1002/sim.10279

Abstract: The success of a Mendelian randomization (MR) study critically depends on the validity of the assumptions underlying MR. We focus on detecting heterogeneity (also known as horizontal pleiotropy) in two‐sample summary‐data MR. A popular approach… read more here.

Keywords: summary data; mendelian randomization; sample summary; two sample ... See more keywords

Statistical methods to detect novel genetic variants using publicly available GWAS summary data

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Published in 2018 at "Computational biology and chemistry"

DOI: 10.1016/j.compbiolchem.2018.02.016

Abstract: We propose statistical methods to detect novel genetic variants using only genome-wide association studies (GWAS) summary data without access to raw genotype and phenotype data. With more and more summary data being posted for public… read more here.

Keywords: detect novel; summary data; statistical methods; genetic variants ... See more keywords

Exploring the causal role of pathogen-derived antibodies in major urinary and kidney diseases: Insights from generalized summary data-based Mendelian randomization

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Published in 2025 at "Virulence"

DOI: 10.1080/21505594.2025.2473631

Abstract: ABSTRACT Chronic kidney and urinary tract diseases, including glomerulonephritis, nephrotic syndrome, and chronic kidney disease (CKD), present significant global health challenges. Recent studies suggest a complex interplay between infectious pathogens and immune-mediated kidney damage. This… read more here.

Keywords: based mendelian; summary data; pathogen; data based ... See more keywords

Integrating multi-omics summary data using a Mendelian randomization framework

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Published in 2022 at "Briefings in Bioinformatics"

DOI: 10.1093/bib/bbac376

Abstract: Abstract Mendelian randomization is a versatile tool to identify the possible causal relationship between an omics biomarker and disease outcome using genetic variants as instrumental variables. A key theme is the prioritization of genes whose… read more here.

Keywords: usepackage; multi omics; mendelian randomization; integrating multi ... See more keywords

Integrative Analysis of Individual-Level Data and High-Dimensional Summary Statistics.

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Published in 2023 at "Bioinformatics"

DOI: 10.1093/bioinformatics/btad156

Abstract: MOTIVATION Researchers usually conduct statistical analyses based on models built on raw data collected from individual participants (individual-level data). There is a growing interest in enhancing inference efficiency by incorporating aggregated summary information from other… read more here.

Keywords: dimensional summary; level; individual level; high dimensional ... See more keywords

Generalized integration model for improved statistical inference by leveraging external summary data

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Published in 2020 at "Biometrika"

DOI: 10.1093/biomet/asaa014

Abstract: SummaryMeta-analysis has become a powerful tool for improving inference by gathering evidence from multiple sources. It pools summary-level data from different studies to improve estimation efficiency with the assumption that all participating studies are analysed… read more here.

Keywords: generalized integration; summary data; external summary; model ... See more keywords

OpenXGR: a web-server update for genomic summary data interpretation.

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Published in 2023 at "Nucleic acids research"

DOI: 10.1093/nar/gkad357

Abstract: How to effectively convert genomic summary data into downstream knowledge discovery represents a major challenge in human genomics research. To address this challenge, we have developed efficient and effective approaches and tools. Extending our previously… read more here.

Keywords: genomic summary; web server; snps genomic; summary data ... See more keywords

Identification of biomarkers for endometriosis based on summary-data-based Mendelian randomization and machine learning

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Published in 2025 at "Medicine"

DOI: 10.1097/md.0000000000041804

Abstract: Endometriosis (EM) significantly impacts the quality of life, and its diagnosis currently relies on surgery, which carries risks and may miss early lesions. Noninvasive biomarkers are urgently needed for early diagnosis and personalized treatment. This… read more here.

Keywords: analysis; based mendelian; summary data; machine learning ... See more keywords

Revealing the genetic and immunological crosstalk between SLE and ccRCC: An integrative genomic analysis approach

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Published in 2025 at "Medicine"

DOI: 10.1097/md.0000000000045953

Abstract: Although systemic lupus erythematosus (SLE) and clear cell renal cell carcinoma (ccRCC) are clinically distinct, emerging evidence suggests they may share underlying genetic and immunoregulatory mechanisms. However, the specific molecular basis of their potential comorbidity… read more here.

Keywords: ccrcc; revealing genetic; analysis; summary data ... See more keywords

A comprehensive framework for trans-ancestry pathway analysis using GWAS summary data from diverse populations

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Published in 2024 at "PLOS Genetics"

DOI: 10.1371/journal.pgen.1011322

Abstract: As more multi-ancestry GWAS summary data become available, we have developed a comprehensive trans-ancestry pathway analysis framework that effectively utilizes this diverse genetic information. Within this framework, we evaluated various strategies for integrating genetic data… read more here.

Keywords: ancestry pathway; summary data; pathway analysis; gwas summary ... See more keywords