Researchers used exome data for more than 123,000 individuals to map "constrained coding regions," where disease-related variants are over-represented.
GWAS summary statistics data led to three main loci with ties to both Alzheimer's and cardiovascular disease, with additional enrichment at lipid-related sites.
In the Finnish GeneRisk study, patients at high risk for heart disease were especially motivated to take action if their polygenic risk score was high.
The phenome-wide association study focused on SNPs near potential drug target sites with ties to one or more phenotypes that might impact target suitability.
Researchers found that when combined into a risk score, heart disease loci identified in the general population were also associated with heart disease in type 2 diabetes.
Using SNP profiles, gut microbe metagenomics, and other data, researchers identified host and microbe factors influencing circulating levels of CVD markers.
A new study finds that the majority of patients at a Tijuana clinic received a diagnosis after first-line genome sequencing, the San Diego Union-Tribune reports.
In Genome Biology this week: post-transcriptional modification-based stratification of glioblastoma, single-cell analysis of gene expression and methylation in human iPSCs, and more.
