Multi-omics approaches to disease
High-throughput technologies have revolutionized medical research. The advent of
genotyping arrays enabled large-scale genome-wide association studies and methods for …
genotyping arrays enabled large-scale genome-wide association studies and methods for …
The role of regulatory variation in complex traits and disease
FW Albert, L Kruglyak - Nature Reviews Genetics, 2015 - nature.com
We are in a phase of unprecedented progress in identifying genetic loci that cause variation
in traits ranging from growth and fitness in simple organisms to disease in humans …
in traits ranging from growth and fitness in simple organisms to disease in humans …
IL-11 is a crucial determinant of cardiovascular fibrosis
Fibrosis is a common pathology in cardiovascular disease. In the heart, fibrosis causes
mechanical and electrical dysfunction, and in the kidney, it predicts the onset of renal failure …
mechanical and electrical dysfunction, and in the kidney, it predicts the onset of renal failure …
Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus
J Bentham, DL Morris, DS Cunninghame Graham… - Nature …, 2015 - nature.com
Systemic lupus erythematosus (SLE) is a genetically complex autoimmune disease
characterized by loss of immune tolerance to nuclear and cell surface antigens. Previous …
characterized by loss of immune tolerance to nuclear and cell surface antigens. Previous …
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers
Genetic studies of type 1 diabetes (T1D) have identified 50 susceptibility regions,, finding
major pathways contributing to risk, with some loci shared across immune disorders,,. To …
major pathways contributing to risk, with some loci shared across immune disorders,,. To …
Systematic identification of trans eQTLs as putative drivers of known disease associations
Identifying the downstream effects of disease-associated SNPs is challenging. To help
overcome this problem, we performed expression quantitative trait locus (eQTL) meta …
overcome this problem, we performed expression quantitative trait locus (eQTL) meta …
DNA methylation and body-mass index: a genome-wide analysis
KJ Dick, CP Nelson, L Tsaprouni, JK Sandling, D Aïssi… - The Lancet, 2014 - thelancet.com
Background Obesity is a major health problem that is determined by interactions between
lifestyle and environmental and genetic factors. Although associations between several …
lifestyle and environmental and genetic factors. Although associations between several …
Viral infections in type 1 diabetes mellitus—why the β cells?
A Op de Beeck, DL Eizirik - Nature Reviews Endocrinology, 2016 - nature.com
Type 1 diabetes mellitus (T1DM) is caused by progressive autoimmune-mediated loss of
pancreatic β-cell mass via apoptosis. The onset of T1DM depends on environmental factors …
pancreatic β-cell mass via apoptosis. The onset of T1DM depends on environmental factors …
Fast and rigorous computation of gene and pathway scores from SNP-based summary statistics
Integrating single nucleotide polymorphism (SNP) p-values from genome-wide association
studies (GWAS) across genes and pathways is a strategy to improve statistical power and …
studies (GWAS) across genes and pathways is a strategy to improve statistical power and …
Mapping cis- and trans-regulatory effects across multiple tissues in twins
Sequence-based variation in gene expression is a key driver of disease risk. Common
variants regulating expression in cis have been mapped in many expression quantitative …
variants regulating expression in cis have been mapped in many expression quantitative …