genetic risk variants

In analyses of multiple traits and diseases, investigators uncovered loss-of-function or truncating changes with apparent protective effects.

Data from almost 19,500 individuals did not show clear ties between a heterozygous mutation in the HBB hemoglobin beta gene and ischemic stroke risk.

St. Jude researchers found germline mutations in the transcription factor gene IKZF1 in 0.9 percent of presumed sporadic pediatric acute lymphoblastic leukemia cases.

Using large-scale GWAS data, researchers saw shared genetic contributors for ALS and frontotemporal dementia, as well as ALS and progressive supranuclear palsy.

Using data for thousands of Chinese individuals, researchers saw new and known variants associated with type 2 diabetes, fasting glucose levels, and other metabolic traits.

Researchers detected excess genetic risk and/or misclassification when profiling ClinVar variants in ACMG-59 and OrphaNet genes using genome and exome sequences.