Results 21 to 30 of about 39,970,022 (174)

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

open access: yes, 2021
Abstract Hematological 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 ...
Amanda L Tapia   +18 more
openaire   +1 more source

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights [PDF]

open access: yes, 2018
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 ...
Hyejung Won   +44 more
core   +7 more sources

Transcriptome-wide association study identified candidate genes associated with gut microbiota

open access: yesGut Pathogens, 2021
Background Gut microbiota is closely associated with host health and disease occurrence. Host genetic factor plays an important role in shaping gut microbial communities.
Chuyu Pan   +12 more
doaj   +1 more source

Transcriptome-wide association studies: recent advances in methods, applications and available databases

open access: yesCommunications 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

open access: yesEBioMedicine, 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

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

open access: yesAlzheimer'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   +9 more
openaire   +1 more source

Population-Matched Transcriptome Prediction Increases TWAS Discovery and Replication Rate

open access: yesiScience, 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

MiXcan: a framework for cell-type-aware transcriptome-wide association studies with an application to breast cancer

open access: yesNature Communications, 2023
Conventional transcriptome-wide association study (TWAS) approaches predict genetically regulated gene expression at the tissue level. Here, the authors develop a framework for cell-type-aware TWAS that predicts cell-type level expression from genotype ...
Xiaoyu Song   +12 more
doaj   +1 more source

Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci

open access: yesBreast 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   +1 more source

Novel Variance-Component TWAS method for studying complex human diseases with applications to Alzheimer's dementia.

open access: yesPLoS Genetics, 2021
Transcriptome-wide association studies (TWAS) have been widely used to integrate transcriptomic and genetic data to study complex human diseases. Within a test dataset lacking transcriptomic data, traditional two-stage TWAS methods first impute gene ...
Shizhen Tang   +5 more
doaj   +1 more source

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