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 ...
S. Kim +7 more
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Power Analysis of Transcriptome-Wide Association Studies (TWAS)
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
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Transcriptome‐Wide Association Studies (TWAS): Methodologies, Applications, and Challenges [PDF]
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 +5 more
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A cross-tissue transcriptome-wide association study identifies novel candidate genes associated with brain glymphatic system function. [PDF]
The glymphatic system plays a key role in brain waste clearance, but its genetic regulation remains poorly understood. Diffusion Tensor Image Analysis along the Perivascular Space (DTI-ALPS) index is a non-invasive imaging biomarker to asses glymphatic ...
Zhu X +6 more
europepmc +2 more sources
MAAT: a new nonparametric Bayesian framework for incorporating multiple functional annotations in transcriptome-wide association studies [PDF]
Transcriptome-wide association study (TWAS) has emerged as a powerful tool for translating the myriad variations identified by genome-wide association studies (GWAS) into regulated genes in the post-GWAS era.
Han Wang +5 more
doaj +2 more sources
Transcriptome-wide association study revealed novel causal genes of renal-biopsy proven diabetic nephropathy. [PDF]
While genome-wide association studies (GWAS) have shown that genetic variants are linked to diabetic nephropathy (DN), the precise gene responsible for influencing risk remains largely unidentified, and the issue of missing heritability persists.
Ma Z +8 more
europepmc +2 more sources
TWAS-CTL: A robust and efficient method for multi-tissue transcriptome-wide association studies using cross-tissue learners [PDF]
Abstract The advent of transcriptome-wide association studies (TWAS) has expanded the classical genome-wide association study (GWAS) framework by integrating gene expression with genetic variation to identify trait-associated variants.
Md Mutasim Billah +3 more
openalex +2 more sources
Large-scale transcriptome-wide association study identifies new prostate cancer risk regions [PDF]
Genome-wide association studies (GWAS) have identified hundreds of genomic risk regions for prostate cancer. Here, the authors perform a transcriptome wide association study (TWAS) by incorporating prostate cancer GWAS with gene expression data to ...
Nicholas Mancuso +10 more
doaj +10 more sources
Editorial: Statistical methods for genome-wide association studies (GWAS) and transcriptome-wide association studies (TWAS) and their applications [PDF]
Mengting Shao +6 more
openalex +4 more sources
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights [PDF]
Genome-wide association studies (GWAS) have identified over 100 risk loci for schizophrenia, but the causal mechanisms remain largely unknown. We performed a transcriptome-wide association study (TWAS) integrating a schizophrenia GWAS of 79,845 ...
A. Gusev +17 more
semanticscholar +7 more sources

