On the interpretation of transcriptome-wide association studies.
PLoS Genetics, 2023 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.
Christiaan de Leeuw +4 more
doaj +2 more sources
MAAT: a new nonparametric Bayesian framework for incorporating multiple functional annotations in transcriptome-wide association studies [PDF]
Genome BiologyTranscriptome-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
Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci [PDF]
Breast Cancer Research, 2022 Background Mammographic density (MD) phenotypes, including percent density (PMD), area of dense tissue (DA), and area of non-dense tissue (NDA), are associated with breast cancer risk. Twin studies suggest that MD phenotypes are highly heritable. However,
Hongjie Chen +56 more
doaj +7 more sources
npj Genomic Medicine, 2021 Anthracyclines are highly effective chemotherapeutic agents; however, their clinical utility is limited by severe anthracycline-induced cardiotoxicity (ACT).
Erika N. Scott +10 more
doaj +2 more sources
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. [Elektronisk resurs] [PDF]
, 2020 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 +7 more sources
Systematic Multi-Level Analyses Decode the Arthritis-Neurodegeneration Axis With In Vivo Validation. [PDF]
Adv Sci (Weinh)Arthritis and neurodegeneration are usually studied as separate disorders, but this study connects them through population evidence, genetic inference, transcriptomic mapping, and mouse models. It highlights RNF40 as a context‐dependent joint‐brain candidate, induced in inflammatory joints yet functionally linked to dopamine‐neuron vulnerability ...
Wang J +7 more
europepmc +2 more sources
Integrative Multi-Omics Analysis Identifies Thrombosis-Associated Molecular Features Linked to Germline Susceptibility and Immune Cell Communication in Gastric Cancer. [PDF]
Chem Biol Drug DesIntegrative multi‐omics analysis identified thrombosis‐associated molecular features associated with prognosis and germline susceptibility‐related transcriptional programs in gastric cancer. ACTN2 and CRYAB emerged as candidate molecules linked to gastric cancer cell migration and invasion, with single‐cell analysis suggesting potential neutrophil ...
Lu X +7 more
europepmc +2 more sources
Communications Biology, 2023 Genome-wide association study has identified fruitful variants impacting heritable traits. Nevertheless, identifying critical genes underlying those significant variants has been a great task.
Jialin Mai +4 more
doaj +1 more source
Dissecting the genetic heterogeneity of gastric cancerResearch in context
EBioMedicine, 2023 Summary: Background: Gastric cancer (GC) is clinically heterogenous according to location (cardia/non-cardia) and histopathology (diffuse/intestinal). We aimed to characterize the genetic risk architecture of GC according to its subtypes.
Timo Hess +133 more
doaj +1 more source
Population-Matched Transcriptome Prediction Increases TWAS Discovery and Replication Rate
iScience, 2020 Summary: Most genome-wide association studies (GWAS) and transcriptome-wide association studies (TWAS) focus on European populations; however, these results cannot always be accurately applied to non-European populations due to genetic architecture ...
Elyse Geoffroy +2 more
doaj +1 more source