Results 1 to 10 of about 2,682 (121)

A large-scale transcriptome-wide association study (TWAS) of 10 blood cell phenotypes reveals complexities of TWAS fine-mapping. [PDF]

Genet Epidemiol, 2022
AbstractHematological measures are important intermediate clinical phenotypes for many acute and chronic diseases and are highly heritable. Although genome‐wide association studies (GWAS) have identified thousands of loci containing trait‐associated variants, the causal genes underlying these associations are often uncertain.
Tapia AL, Rowland BT, Rosen JD, Preuss M, Young K, Graff M, Choquet H, Couper DJ, Buyske S, Bien SA, Jorgenson E, Kooperberg C, Loos RJF, Morrison AC, North KE, Yu B, Reiner AP, Li Y, Raffield LM.   +18 more
europepmc   +5 more sources

TWAS atlas 2.0: an updated data resource for transcriptome-wide association studies. [PDF]

Nucleic Acids Res
Abstract Transcriptome-wide association studies (TWAS), which combine large-scale GWAS and expression quantitative trait loci (eQTL) datasets to predict gene expression levels and identify trait-related genes, have recently been applied across many traits.
Gao H, Bu C, Zheng S, Mai J, Wang J, Tang R, Fan Z, Zeng J, Li J, Xiao J.   +9 more
europepmc   +3 more sources

Methyl-TWAS: A Powerful Method for In Silico Transcriptome-wide Association Studies (TWAS) Using Long-range DNA Methylation [PDF]

B16. NOVEL INSIGHTS INTO ASTHMA PATHOGENESIS, 2023
ABSTRACTIn silicotranscriptome-wide association studies (TWAS) are commonly used to test whether expression of specific genes is linked to a complex trait. However, genotype-basedin silicoTWAS such as PrediXcan, exhibit low prediction accuracy for a majority of genes because genotypic data lack tissue- and disease-specificity and are not affected by ...
Soyeon Kim, Yidi Qin, Hyun Jung Park, Molin Yue, Zhongli Xu, Erick Forno, Wei Chen, Juan C. Celedón   +7 more
  +5 more sources

TWAS Atlas: a curated knowledgebase of transcriptome-wide association studies [PDF]

Nucleic Acids Research, 2022
Abstract Transcriptome-wide association studies (TWASs), as a practical and prevalent approach for detecting the associations between genetically regulated genes and traits, are now leading to a better understanding of the complex mechanisms of genetic variants in regulating various diseases and traits.
Mingming Lu, Yadong Zhang, Fengchun Yang, Jialin Mai, Qianwen Gao, Xiaowei Xu, Hongyu Kang, Li Hou, Yunfei Shang, Qiheng Qain, Jie Liu, Meiye Jiang, Hao Zhang, Congfan Bu, Jinyue Wang, Zhewen Zhang, Zaichao Zhang, Jingyao Zeng, Jiao Li, Jingfa Xiao   +19 more
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A large-scale transcriptome-wide association study (TWAS) of ten blood cell phenotypes reveals complexities of TWAS fine-mapping [PDF]

, 2021
AbstractHematological measures are important intermediate clinical phenotypes for many acute and chronic diseases. Hematological measures are highly heritable, and although genome-wide association studies (GWAS) have identified thousands of loci containing trait-associated variants, the causal genes underlying these associations are often uncertain. To
Amanda L Tapia, Bryce T Rowland, Jonathan D Rosen, Michael Preuss, Kris Young, Misa Graff, Hélène Choquet, David J Couper, Steve Buyske, Stephanie A Bien, Eric Jorgenson, Charles Kooperberg, Ruth J.F. Loos, Alanna C Morrison, Kari E North, Bing Yu, Alexander P Reiner, Yun Li, Laura M Raffield   +18 more
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UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes [PDF]

Translational Psychiatry, 2021
Abstract Autism spectrum disorders (ASD) is a complex neurodevelopmental disorder that may significantly impact on the affected individual’s life. Common variation (SNPs) could explain about 50% of ASD heritability.
Cristina Rodriguez-Fontenla, Angel Carracedo   +1 more
openaire   +5 more sources

Brain transcriptome wide association study (TWAS) implicates 8 genes across 6 loci in Alzheimer’s disease [PDF]

Alzheimer's & Dementia, 2020
AbstractBackgroundAlzheimer’s disease (AD), an incurable neurodegenerative disease, currently affects 1.75% of the United States population, with projected growth to 3.46% by 2050. Common genetic variation linked transcript expression differences which confer AD‐risk isl necessary to elucidate AD mechanism and develop therapeutic interventions.
Jake Gockley, Kelsey S. Montgomery, William L. Poehlman, Yue Liu, Ekaterina S. Gerasimov, Anna K. Greenwood, Aliza P. Wingo, Thomas S. Wingo, Lara M. Mangravite, Benjamin A. Logsdon   +9 more
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UTMOST, A Novel Single And Cross-Tissue TWAS (Transcriptome Wide Association Study), Reveals New ASD (Autism Spectrum Disorder) Associated Genes [PDF]

, 2020
ABSTRACTBackgroundASD is a complex neurodevelopmental disorder which may significantly impact on the affected individual’s life. Common variation (SNPs) could explain about 50% of ASD heritability. Despite this fact and the large size of the last GWAS meta-analysis, it is believed that hundreds of risk genes in ASD have yet to be discovered.
Cristina Rodriguez-Fontenla, Angel Carracedo   +1 more
openaire   +2 more sources

Transcriptome‐Wide Association Studies (TWAS): Methodologies, Applications, and Challenges [PDF]

Current Protocols
AbstractTranscriptome‐wide association study (TWAS) methodologies aim to identify genetic effects on phenotypes through the mediation of gene transcription. In TWAS, in silico models of gene expression are trained as functions of genetic variants and then applied to genome‐wide association study (GWAS) data.
Patrick Evans, Taylor Nagai, Anuar Konkashbaev, Dan Zhou, Ela W. Knapik, Eric R. Gamazon   +5 more
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Power Analysis of Transcriptome-Wide Association Studies (TWAS)

, 2020
Association studies between genetic variants and complex traits are popular and valuable in both genetic and clinical fields. Among all kinds of studies proposed, transcriptome-wide association studies (TWAS) have become influential and widely used. In my thesis, I focus on revealing under which settings of genetic parameters and architectures, TWAS ...
Bowei Ding
openaire   +3 more sources