genetic risk variants

To explore the genetic basis of clonal hematopoiesis and its consequences, researchers analyzed genotyping data for more than 151,000 UK Biobank participants.

The researchers were able to diagnose 17 patients with short telomere syndrome based on telomere length combined with targeted sequence data.

Using data from the UK Biobank, researchers explored relative contributions that genetics and lifestyle make to cardiovascular disease and diabetes risk.

Mayo Clinic researchers found that mutations in these genes could be found in nearly 6 percent of patients and argued for germline genetic testing for patients.

A large meta-analysis and functional genomic assessment of a risky HLA haplotype uncovered hypomethylation that alters immune-related expression at the locus.

A TWAS in 229,000 women led to 48 genes with apparent links to breast cancer, serving as fodder for additional pathway and functional analyses.

An association study involving more than 100,000 individuals led to overlapping and distinct variants involved in bipolar disorder, schizophrenia, and subtypes of each.

Using data for more than 140,000 individuals, researchers narrowed in on 63 new prostate cancer-associated loci and established a polygenic score linked to enhanced risk.