Researchers used exome data for more than 123,000 individuals to map "constrained coding regions," where disease-related variants are over-represented.
The 9p21.3 locus influences the expression of other genes, and affects cell adhesion and contractile force of vascular smooth muscle cells.
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.
Genetic and phenotypic data for Million Veteran Program participants led to loss-of-function changes in a gene inhibited by cilostazol.
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.
Genome-wide polygenic risk scores highlight those at risk of coronary artery disease, atrial fibrillation, type 2 diabetes, IBD, and breast cancer.
Under a new partnership, Finnish DTC testing company Negen will send its raw genetic test data to BC Platforms to aid in reporting test results to clinicians.
Customers might want to consider what they might learn about their risk of diseases like Alzheimer's before snagging the genetic testing kits that are on many gift guides this year, NJ.com writes.
The Wall Street Journal reports there is uncertainty surrounding whether He Jiankui's embryo editing did what he said it did.
Stat News reports that the pause on procuring fetal tissue for intramural US National Institutes of Health research will soon affect additional labs there.
In Nature this week: genomic analysis of the invasive fall webworm, amp of constrained coding regions within the human genome, and more.