Opportunities and challenges for transcriptome-wide association studies
Transcriptome-wide association studies (TWAS) integrate genome-wide association studies
(GWAS) and gene expression datasets to identify gene–trait associations. In this …
(GWAS) and gene expression datasets to identify gene–trait associations. In this …
Advancing the use of genome-wide association studies for drug repurposing
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …
complex diseases, which are broadly expected to lead to the identification of new drug …
Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Age is the dominant risk factor for most chronic human diseases, but the mechanisms
through which ageing confers this risk are largely unknown. The age-related acquisition of …
through which ageing confers this risk are largely unknown. The age-related acquisition of …
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 …
Constrained maximum likelihood-based Mendelian randomization robust to both correlated and uncorrelated pleiotropic effects
With the increasing availability of large-scale GWAS summary data on various complex traits
and diseases, there have been tremendous interests in applications of Mendelian …
and diseases, there have been tremendous interests in applications of Mendelian …
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection
Age is the dominant risk factor for infectious diseases, but the mechanisms linking age to
infectious disease risk are incompletely understood. Age-related mosaic chromosomal …
infectious disease risk are incompletely understood. Age-related mosaic chromosomal …
A unified framework for joint-tissue transcriptome-wide association and Mendelian randomization analysis
Here, we present a joint-tissue imputation (JTI) approach and a Mendelian randomization
framework for causal inference, MR-JTI. JTI borrows information across transcriptomes of …
framework for causal inference, MR-JTI. JTI borrows information across transcriptomes of …
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 …
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 …
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci
The resources generated by the GTEx consortium offer unprecedented opportunities to
advance our understanding of the biology of human diseases. Here, we present an in-depth …
advance our understanding of the biology of human diseases. Here, we present an in-depth …