From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
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 mapping 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
A Kurilshikov, C Medina-Gomez, R Bacigalupe… - Nature …, 2021 - nature.com
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
L Folkersen, S Gustafsson, Q Wang, DH Hansen… - Nature …, 2020 - nature.com
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 …
Genetic variants associated with longitudinal changes in brain structure across the lifespan
Human brain structure changes throughout the lifespan. Altered brain growth or rates of
decline are implicated in a vast range of psychiatric, developmental and neurodegenerative …
decline are implicated in a vast range of psychiatric, developmental and neurodegenerative …
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 …