[HTML][HTML] 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 …
Genomics of hypertension: the road to precision medicine
S Padmanabhan, AF Dominiczak - Nature Reviews Cardiology, 2021 - nature.com
The known genetic architecture of blood pressure now comprises> 30 genes, with rare
variants resulting in monogenic forms of hypertension or hypotension and> 1,477 common …
variants resulting in monogenic forms of hypertension or hypotension and> 1,477 common …
Single-cell RNA-seq reveals cell type–specific molecular and genetic associations to lupus
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease. Knowledge
of circulating immune cell types and states associated with SLE remains incomplete. We …
of circulating immune cell types and states associated with SLE remains incomplete. We …
[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
Biobanks facilitate genome-wide association studies (GWASs), which have mapped
genomic loci across a range of human diseases and traits. However, most biobanks are …
genomic loci across a range of human diseases and traits. However, most biobanks are …
[HTML][HTML] Genetic control of RNA splicing and its distinct role in complex trait variation
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …
are noncoding, indicating their role in gene regulation. Previous studies have shown …
Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens
Most variants associated with complex traits and diseases identified by genome-wide
association studies (GWAS) map to noncoding regions of the genome with unknown effects …
association studies (GWAS) map to noncoding regions of the genome with unknown effects …
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders
Understanding the tissue-specific genetic controls of protein levels is essential to uncover
mechanisms of post-transcriptional gene regulation. In this study, we generated a genomic …
mechanisms of post-transcriptional gene regulation. In this study, we generated a genomic …
Genetics of blood lipids among~ 300,000 multi-ethnic participants of the Million Veteran Program
D Klarin, SM Damrauer, K Cho, YV Sun, TM Teslovich… - Nature …, 2018 - nature.com
Abstract The Million Veteran Program (MVP) was established in 2011 as a national research
initiative to determine how genetic variation influences the health of US military veterans …
initiative to determine how genetic variation influences the health of US military veterans …
[HTML][HTML] Orienting the causal relationship between imprecisely measured traits using GWAS summary data
Inference about the causal structure that induces correlations between two traits can be
achieved by combining genetic associations with a mediation-based approach, as is done in …
achieved by combining genetic associations with a mediation-based approach, as is done in …
Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies
Improved understanding of genetic regulation of the proteome can facilitate identification of
the causal mechanisms for complex traits. We analyzed data on 4,657 plasma proteins from …
the causal mechanisms for complex traits. We analyzed data on 4,657 plasma proteins from …