genetic risk variants
Geisinger MyCode Study Reveals Prevalence of Somatic Variants Linked to Rare Syndrome
Using exome sequence data for more than 163,000 Geisinger MyCode participants, researchers looked for variants in UBA1 that have been linked to VEXAS syndrome.
Type 2 Diabetes Mechanisms, Risk Genes Identified in GWAS Meta-Analysis
Researchers uncovered candidate risk genes and potential mechanisms and conducted further analyses of proinsulin-associated risk loci.
Sarcoma Susceptibility Traced to Telomere Function, Mitotic Pathways
A search for rare sarcoma-related germline variants led to centromere and shelterin genes involved in mitotic function and telomere regulation, respectively.
Cochlear Implant Outcomes Linked to Type of Genetic Diagnosis for Childhood Hearing Loss
Data from more than 400 families affected by childhood-onset hearing loss indicated that specific genes and variants can provide prognostic clues, including success of cochlear implants.
Varicose Vein GWAS Points to Vascular Risk Loci, Potential Treatment Targets
Starting with a multi-ancestry genome-wide association study, researchers unearthed varicose vein-related variants, along with related traits and treatment targets.