Integrative approaches for large-scale transcriptome-wide association studies

A Gusev, A Ko, H Shi, G Bhatia, W Chung… - Nature …, 2016 - nature.com
Many genetic variants influence complex traits by modulating gene expression, thus altering
the abundance of one or multiple proteins. Here we introduce a powerful strategy that …

Integrative transcriptome imputation reveals tissue-specific and shared biological mechanisms mediating susceptibility to complex traits

W Zhang, G Voloudakis, VM Rajagopal… - Nature …, 2019 - nature.com
Transcriptome-wide association studies integrate gene expression data with common risk
variation to identify gene-trait associations. By incorporating epigenome data to estimate the …

Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits

I Tachmazidou, D Süveges, JL Min, GRS Ritchie… - The American Journal of …, 2017 - cell.com
Deep sequence-based imputation can enhance the discovery power of genome-wide
association studies by assessing previously unexplored variation across the common-and …

A statistical framework for cross-tissue transcriptome-wide association analysis

Y Hu, M Li, Q Lu, H Weng, J Wang, SM Zekavat, Z Yu… - Nature …, 2019 - nature.com
Transcriptome-wide association analysis is a powerful approach to studying the genetic
architecture of complex traits. A key component of this approach is to build a model to impute …

Probabilistic fine-mapping of transcriptome-wide association studies

N Mancuso, MK Freund, R Johnson, H Shi, G Kichaev… - Nature …, 2019 - nature.com
Transcriptome-wide association studies using predicted expression have identified
thousands of genes whose locally regulated expression is associated with complex traits …

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

L Southam, A Gilly, D Süveges, AE Farmaki… - Nature …, 2017 - nature.com
Next-generation association studies can be empowered by sequence-based imputation and
by studying founder populations. Here we report∼ 9.5 million variants from whole-genome …

An integrative genomics approach to infer causal associations between gene expression and disease

EE Schadt, J Lamb, X Yang, J Zhu, S Edwards… - Nature …, 2005 - nature.com
A key goal of biomedical research is to elucidate the complex network of gene interactions
underlying complex traits such as common human diseases. Here we detail a multistep …

Tensor decomposition for multiple-tissue gene expression experiments

V Hore, A Vinuela, A Buil, J Knight, MI McCarthy… - Nature …, 2016 - nature.com
Genome-wide association studies of gene expression traits and other cellular phenotypes
have successfully identified links between genetic variation and biological processes. The …

Genetics of gene expression and its effect on disease

V Emilsson, G Thorleifsson, B Zhang, AS Leonardson… - Nature, 2008 - nature.com
Common human diseases result from the interplay of many genes and environmental
factors. Therefore, a more integrative biology approach is needed to unravel the complexity …

A functional genomics pipeline identifies pleiotropy and cross-tissue effects within obesity-associated GWAS loci

AC Joslin, DR Sobreira, GT Hansen, NJ Sakabe… - Nature …, 2021 - nature.com
Genome-wide association studies (GWAS) have identified many disease-associated
variants, yet mechanisms underlying these associations remain unclear. To understand …