From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …
associated with complex traits. These associations could reveal the molecular mechanisms …
Autoimmunity and organ damage in systemic lupus erythematosus
GC Tsokos - Nature immunology, 2020 - nature.com
Impressive progress has been made over the last several years toward understanding how
almost every aspect of the immune system contributes to the expression of systemic …
almost every aspect of the immune system contributes to the expression of systemic …
Single-cell eQTL map** identifies cell type–specific genetic control of autoimmune disease
The human immune system displays substantial variation between individuals, leading to
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …
A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease
Late-onset Alzheimer's disease is a prevalent age-related polygenic disease that accounts
for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying …
for 50–70% of dementia cases. Currently, only a fraction of the genetic variants underlying …
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
Large-scale association analyses identify host factors influencing human gut microbiome composition
To study the effect of host genetics on gut microbiome composition, the MiBioGen
consortium curated and analyzed genome-wide genotypes and 16S fecal microbiome data …
consortium curated and analyzed genome-wide genotypes and 16S fecal microbiome data …
Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals
Circulating proteins are vital in human health and disease and are frequently used as
biomarkers for clinical decision-making or as targets for pharmacological intervention. Here …
biomarkers for clinical decision-making or as targets for pharmacological intervention. Here …
[HTML][HTML] A proteogenomic portrait of lung squamous cell carcinoma
Lung squamous cell carcinoma (LSCC) remains a leading cause of cancer death with few
therapeutic options. We characterized the proteogenomic landscape of LSCC, providing a …
therapeutic options. We characterized the proteogenomic landscape of LSCC, providing a …
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
We report on the influence of~ 22 million variants on 731 immune cell traits in a cohort of
3,757 Sardinians. We detected 122 significant (P< 1.28× 10− 11) independent association …
3,757 Sardinians. We detected 122 significant (P< 1.28× 10− 11) independent association …
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
effects on the transcriptome across human tissues and to link these regulatory mechanisms …