Probabilistic fine-mapping of transcriptome-wide association studies [PDF]
Transcriptome-wide association studies using predicted expression have identified thousands of genes whose locally regulated expression is associated with complex traits and diseases.
Kichaev, Gleb +13 more
core +6 more sources
Transcriptome-wide association study identifies susceptibility genes for rheumatoid arthritis [PDF]
Objective To identify rheumatoid arthritis (RA)-associated susceptibility genes and pathways through integrating genome-wide association study (GWAS) and gene expression profile data. Methods A transcriptome-wide association study (TWAS) was conducted by
Cuiyan Wu +11 more
doaj +3 more sources
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. [Elektronisk resurs] [PDF]
Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations ...
Ellberg, Carolina, +7 more
core +21 more sources
Multi-ethnic transcriptome-wide association study of prostate cancer.
The genetic risk for prostate cancer has been governed by a few rare variants with high penetrance and over 150 commonly occurring variants with lower impact on risk; however, most of these variants have been identified in studies containing exclusively ...
Peter N Fiorica +4 more
doaj +4 more sources
On the interpretation of transcriptome-wide association studies [PDF]
Abstract Transcriptome-wide association studies (TWAS) aim to detect relationships between gene expression and a phenotype, and are commonly used for secondary analysis of genome-wide association study (GWAS) results. Results from TWAS analyses are often interpreted as indicating a geneticrelationship between gene expression and a ...
de Leeuw, Christiaan +4 more
openaire +6 more sources
Multi-tissue transcriptome-wide association studies [PDF]
Abstract Many genetic mutations affecting phenotypes are presumed to do so via altering gene expression in particular cells or tissues, but identifying the specific genes involved has been challenging. A transcriptome-wide association study (TWAS) attempts to identify disease associated genes by first learning a predictive model on an ...
Grinberg, Nastasiya F, Wallace, Chris
openaire +2 more sources
Assigning function to genome wide association study variants associated with complex gastrointestinal disease [PDF]
PhDThe genome‐wide association study era has identified numerous loci associated with many common polygenic diseases. The next challenge is to identify the functional consequences of these variants and elicit how they impact on disease risk.
Heap, Graham Alastair Richard
core +4 more sources
Proteome-Wide Association Studies for Blood Lipids and Comparison with Transcriptome-Wide Association Studies [PDF]
Abstract Blood lipid traits are treatable and heritable risk factors for heart disease, a leading cause of mortality worldwide. Although genome-wide association studies (GWAS) have discovered hundreds of variants associated with lipids in humans, most of the causal mechanisms of lipids remain unknown. To better understand the biological
Daiwei Zhang +21 more
openaire +5 more sources
Statistical power of transcriptome‐wide association studies
AbstractTranscriptome‐Wide Association Studies (TWASs) have become increasingly popular in identifying genes (or other endophenotypes or exposures) associated with complex traits. In TWAS, one first builds a predictive model for gene expressions using an expression quantitative trait loci (eQTL) data set in stage 1, then tests the association between ...
Ruoyu He, Haoran Xue, Wei Pan
openaire +2 more sources
Network regression analysis in transcriptome-wide association studies
Abstract Background Transcriptome-wide association studies (TWASs) have shown great promise in interpreting the findings from genome-wide association studies (GWASs) and exploring the disease mechanisms, by integrating GWAS and eQTL mapping studies. Almost all TWAS methods only focus on one gene at a time, with exception
Jin, Xiuyuan +5 more
openaire +4 more sources

