Molecular quantitative trait loci
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …
genetics, as much of disease-associated variation is located in non-coding regions with …
webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study
The development of transcriptome-wide association studies (TWAS) has enabled
researchers to better identify and interpret causal genes in many diseases. However, there …
researchers to better identify and interpret causal genes in many diseases. However, there …
Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease
Aberrant splicing underlies many human diseases, including cancer, cardiovascular
diseases and neurological disorders. Genome-wide mapping of splicing quantitative trait …
diseases and neurological disorders. Genome-wide mapping of splicing quantitative trait …
Quantifying genetic effects on disease mediated by assayed gene expression levels
Disease variants identified by genome-wide association studies (GWAS) tend to overlap
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …
Brain proteome-wide association study implicates novel proteins in depression pathogenesis
Depression is a common condition, but current treatments are only effective in a subset of
individuals. To identify new treatment targets, we integrated depression genome-wide …
individuals. To identify new treatment targets, we integrated depression genome-wide …
Mapping the genetic architecture of human traits to cell types in the kidney identifies mechanisms of disease and potential treatments
The functional interpretation of genome-wide association studies (GWAS) is challenging due
to the cell-type-dependent influences of genetic variants. Here, we generated …
to the cell-type-dependent influences of genetic variants. Here, we generated …
Integrating transcription factor occupancy with transcriptome-wide association analysis identifies susceptibility genes in human cancers
Transcriptome-wide association studies (TWAS) have successfully discovered many
putative disease susceptibility genes. However, TWAS may suffer from inaccuracy of gene …
putative disease susceptibility genes. However, TWAS may suffer from inaccuracy of gene …
TWAS Atlas: a curated knowledgebase of transcriptome-wide association studies
Transcriptome-wide association studies (TWASs), as a practical and prevalent approach for
detecting the associations between genetically regulated genes and traits, are now leading …
detecting the associations between genetically regulated genes and traits, are now leading …
Methods for correcting inference based on outcomes predicted by machine learning
S Wang, TH McCormick… - Proceedings of the …, 2020 - National Acad Sciences
Many modern problems in medicine and public health leverage machine-learning methods
to predict outcomes based on observable covariates. In a wide array of settings, predicted …
to predict outcomes based on observable covariates. In a wide array of settings, predicted …
[HTML][HTML] Delineating the genetic component of gene expression in major depression
Background Major depression (MD) is determined by a multitude of factors including genetic
risk variants that regulate gene expression. We examined the genetic component of gene …
risk variants that regulate gene expression. We examined the genetic component of gene …