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Precision phenotyping using audiometric pure-tone averages enhances genetic variant detection for sensorineural hearing loss compared to diagnostic coding, offering improved heritability estimates and risk prediction to advance hearing heal
A comprehensive cohort study demonstrates that ADHD significantly increases the risk of mild cognitive impairment and dementia in older adults, highlighting the need for targeted monitoring and integrated care in this vulnerable population.
A polygenic risk score (PRS) significantly associates with IPF diagnosis and mortality, demonstrating potential for improving clinical risk stratification using real-world biobank data.
This review synthesizes emerging evidence from the PROACT trials on genotype-first identification of subclinical coronary atherosclerosis using polygenic risk scores (PRS), highlighting feasibility, engagement, and high prevalence of silent
A validated polygenic risk score (PRS) independently predicts peripheral artery disease (PAD) and major adverse limb events (MALE) in patients with cardiometabolic disease, adding modest but significant predictive value beyond traditional c
This study reveals how genetic risk for diabetic retinopathy can be significantly mitigated by healthy lifestyle choices, emphasizing universal behavioral interventions for prevention.
This study compares diagnostic-only versus combined diagnostic and treatment-based definitions of glaucoma in UK Biobank participants, revealing stronger associations of risk factors and severity biomarkers with definitions including treatm
A 2026 Gastroenterology study links PRDM9 deficiency to ectopic DNA breaks, mosaic promoter deletions, and impaired enteric neuronal differentiation in sporadic Hirschsprung disease, while introducing a blood-based molecular score that impr
Population-based testing for breast cancer pathogenic variants identified many women who would not have been flagged by clinical or polygenic risk models, supporting its role in risk-based screening.
This WISDOM Study analysis found that most women with breast cancer pathogenic variants would not have been flagged for high-risk screening by clinical or polygenic risk models alone, supporting population-based genetic testing.
A 2026 Ophthalmology study suggests that combining CTG18.1 expansion testing with a FECD-specific polygenic risk score can improve prediction of keratoplasty risk across independent cohorts.
A UK Biobank study found that lifestyle-related pancreatic cancer risks were strongest in younger adults, especially those with high genetic risk, supporting early prevention efforts.
A large multi-ancestry study shows that publicly available polygenic risk scores improve prediction of type 2 diabetes onset and selected microvascular complications across major global ancestry groups.
Researchers developed and validated integrated polygenic risk scores for eight cardiovascular conditions using data from over 245,000 individuals. These scores demonstrated strong predictive power and improved risk classification, providing
This review explores how polygenic risk scores and clinical factors like BMI and pregnancy history predict incident hypertension 2 to 7 years post-delivery, highlighting the dominance of modifiable risk factors over genetic predisposition.
Researchers have developed a trans-ancestry polygenic risk score (TA-PS) that significantly improves the accuracy of type 1 diabetes prediction across diverse ethnic groups, addressing the long-standing European bias in genetic risk assessm
This review synthesizes findings on the hPDI-Lifestyle score, demonstrating that adherence to a healthy plant-based diet combined with ideal behaviors significantly mitigates coronary heart disease risk, particularly among those with high g
This review synthesizes the landmark 2026 findings by Thériault et al., identifying 36 genomic loci and a significant polygenic contribution to bicuspid aortic valve, offering new insights into cardiac morphogenesis and clinical risk predic
A massive UK Biobank study demonstrates that combining serum metabolomics with polygenic risk scores and clinical data significantly improves the prediction of incident atrial fibrillation, identifying key metabolic markers like linoleic ac
A comprehensive study explores how polygenic risk scores for late-onset Alzheimer’s disease (LOAD) influence early-onset (EOAD) cases. While these scores do not independently predict EOAD onset or cognitive decline, they reveal significant
