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Bridging Ancestry Gaps in Genomic Risk Prediction with Tabular Foundation Models.

MOTIVATION: Models deployed for genomic prediction of diseases perform unevenly across populations, limiting clinical utility. Two factors drive this limitation: large imbalances in sample availability across ancestry groups and non-stationarity of genotype-phenotype effect sizes across the ancestry continuum. While tabular foundation models with in-context learning (ICL) have shown strong sample efficiency in other domains, their effectiveness for genotype-to-phenotype prediction and their robustness to ancestry-driven effect heterogeneity remain unclear. RESULTS: Using large, ancestrally diverse biobank data, we show that ICL-capable tabular foundation models reduce performance degradation in under-sampled ancestry groups compared to conventional supervised approaches. However, we find that prevailing models trained on existing synthetic tabular tasks fail when allele effect sizes vary across ancestry space. Treating genetic ancestry as a continuous variable, we introduce an instruction-tuning framework that exposes models to synthetic tasks with ancestry-dependent non-stationary effects. Instruction-tuned models achieve improved and more stable predictive performance across the genetic ancestry continuum, including for individuals distant from in-context exemplars in ancestry space. AVAILABILITY AND IMPLEMENTATION: All code for instruction-tuning models, synthetic task generation, data wrangling, and model evaluation, is publicly available at https://github.com/ai4pm/Bridging-Ancestry-Gaps-in-Genomic-Risk-Prediction-with-Tabular-Foundation-Models. The final instruction-tuned model (ICL-NS-G2P-proto) is also released in this repository. Detailed documentation is provided, including environment setup instructions and guidelines for running various parts. The instruction-tuning task datasets are available at https://zenodo.org/records/18309187.

Ancestry Continuum

Bridging ancestry gaps in genomic risk prediction with tabular foundation models.

MOTIVATION: Models deployed for genomic prediction of diseases perform unevenly across populations, limiting clinical utility. Two factors drive this limitation: large imbalances in sample availability across ancestry groups and non-stationarity of genotype-phenotype effect sizes across the ancestry continuum. While tabular foundation models with in-context learning (ICL) have shown strong sample efficiency in other domains, their effectiveness for genotype-to-phenotype prediction and their robustness to ancestry-driven effect heterogeneity remain unclear. RESULTS: Using large, ancestrally diverse biobank data, we show that ICL-capable tabular foundation models reduce performance degradation in under-sampled ancestry groups compared to conventional supervised approaches. However, we find that prevailing models trained on existing synthetic tabular tasks fail when allele effect sizes vary across ancestry space. Treating genetic ancestry as a continuous variable, we introduce an instruction-tuning framework that exposes models to synthetic tasks with ancestry-dependent non-stationary effects. Instruction-tuned models achieve improved and more stable predictive performance across the genetic ancestry continuum, including for individuals distant from in-context exemplars in ancestry space. AVAILABILITY AND IMPLEMENTATION: All code for instruction-tuning models, synthetic task generation, data wrangling, and model evaluation, is publicly available at https://github.com/ai4pm/Bridging-Ancestry-Gaps-in-Genomic-Risk-Prediction-with-Tabular-Foundation-Models. The final instruction-tuned model (ICL-NS-G2P-proto) is also released in this repository. Detailed documentation is provided, including environment setup instructions and guidelines for running various parts. The instruction-tuning task datasets are available at https://zenodo.org/records/18309187.

Humans

The Role of Genomic-Informed Risk Assessments in Predicting Dementia Outcomes.

INTRODUCTION: By integrating genetic and clinical risk factors into genomic-informed dementia risk reports, healthcare providers can offer patients detailed risk profiles to facilitate understanding of individual risk and support the implementation of personalized strategies for promoting brain health. METHODS: We constructed an additive score comprising the modified Cardiovascular Risk Factors, Aging, and Incidence of Dementia Risk Score (mCAIDE), family history of dementia, APOE genotype, and an AD polygenic risk score in NACC and ADNI, and assessed its association with progression to all-cause dementia. RESULTS: 81% of participants had at least one high-risk indicator for dementia, with each additional risk indicator linked to a 34% increase in the hazard of dementia onset. DISCUSSION: We found that most participants in memory and aging clinics had at least one high-risk indicator for dementia. Furthermore, we observed a dose-response relationship where a greater number of risk indicators was associated with an increased risk of incident dementia.

dementia risk scores

Predicting risk of ischemic stroke: A transformer model using genomic data.

BACKGROUND AND OBJECTIVE: Ischemic stroke is a leading cause of mortality and long-term disability worldwide. Genetic factors contribute to IS susceptibility, yet conventional polygenic risk score approaches are primarily based on additive effects and may not fully capture non-linear relationships or positional context and interactions among genetic variants. This study aimed to develop and evaluate a transformer-based genomic model incorporating position-wise genotype embedding for IS risk prediction. METHODS: We conducted a genome-wide association study using the UK Biobank dataset to identify IS-associated loci. Gene prioritisation was subsequently performed using tissue-specific expression quantitative trait locus-based Mendelian randomisation and colocalization analyses in whole blood and brain cortex. We then developed a transformer-based model that encoded genotype and SNP-position information using a position-wise embedding layer. Model performance was evaluated across three UK Biobank control definitions and externally assessed in the independent All of Us cohort. Performance metrics included the area under the receiver operating characteristic curve (AUROC), precision, recall, and F1 score. RESULTS: Across the three UK Biobank control definitions, the proposed method achieved the numerically highest discrimination among the evaluated models, with AUROCs of 0.8109, 0.7843, and 0.7468 using MRF-negative, combined, and MRF-positive controls, respectively. In the external All of Us cohort, the proposed method achieved an AUROC of 0.7251 and retained the highest AUROC among the evaluated models. In a separate incident-stroke survival analysis, medium- and high-score groups had hazard ratios of 1.13 and 1.21, respectively, relative to the low-score group. A total of 18 IS-associated loci were identified. Among the tissue-specific MR results, EDEM2 in the brain cortex remained significant after Bonferroni correction, while DCHS2 showed a nominal association. CONCLUSIONS: The proposed transformer-based framework provides a genomic modelling approach that achieved the highest discrimination among the evaluated models in this study and retained comparative performance in an independent external cohort. In further applications, integrating this genomic framework with conventional clinical, lifestyle, and environmental risk factors may support more comprehensive and personalised IS risk assessment. Prospective, population-representative, and multi-ancestry validation will be important to establish its potential role in future prevention-oriented risk management.

Genomics and bioinformatics

Blood-based DNA methylation and exposure risk scores predict PTSD with high accuracy in military and civilian cohorts.

BACKGROUND: Incorporating genomic data into risk prediction has become an increasingly popular approach for rapid identification of individuals most at risk for complex disorders such as PTSD. Our goal was to develop and validate Methylation Risk Scores (MRS) using machine learning to distinguish individuals who have PTSD from those who do not. METHODS: Elastic Net was used to develop three risk score models using a discovery dataset (n&#x2009;=&#x2009;1226; 314 cases, 912 controls) comprised of 5 diverse cohorts with available blood-derived DNA methylation (DNAm) measured on the Illumina Epic BeadChip. The first risk score, exposure and methylation risk score (eMRS) used cumulative and childhood trauma exposure and DNAm variables; the second, methylation-only risk score (MoRS) was based solely on DNAm data; the third, methylation-only risk scores with adjusted exposure variables (MoRSAE) utilized DNAm data adjusted for the two exposure variables. The potential of these risk scores to predict future PTSD based on pre-deployment data was also assessed. External validation of risk scores was conducted in four independent cohorts. RESULTS: The eMRS model showed the highest accuracy (92%), precision (91%), recall (87%), and f1-score (89%) in classifying PTSD using 3730 features. While still highly accurate, the MoRS (accuracy&#x2009;=&#x2009;89%) using 3728 features and MoRSAE (accuracy&#x2009;=&#x2009;84%) using 4150 features showed a decline in classification power. eMRS significantly predicted PTSD in one of the four independent cohorts, the BEAR cohort (beta&#x2009;=&#x2009;0.6839, p=0.006), but not in the remaining three cohorts. Pre-deployment risk scores from all models (eMRS, beta&#x2009;=&#x2009;1.92; MoRS, beta&#x2009;=&#x2009;1.99 and MoRSAE, beta&#x2009;=&#x2009;1.77) displayed a significant (p&#x2009;<&#x2009;0.001) predictive power for post-deployment PTSD. CONCLUSION: The inclusion of exposure variables adds to the predictive power of MRS. Classification-based MRS may be useful in predicting risk of future PTSD in populations with anticipated trauma exposure. As more data become available, including additional molecular, environmental, and psychosocial factors in these scores may enhance their accuracy in predicting PTSD and, relatedly, improve their performance in independent cohorts.

Humans

Blood-based DNA methylation and exposure risk scores predict PTSD with high accuracy in military and civilian cohorts.

BACKGROUND: Incorporating genomic data into risk prediction has become an increasingly useful approach for rapid identification of individuals most at risk for complex disorders such as PTSD. Our goal was to develop and validate Methylation Risk Scores (MRS) using machine learning to distinguish individuals who have PTSD from those who do not. METHODS: Elastic Net was used to develop three risk score models using a discovery dataset (n = 1226; 314 cases, 912 controls) comprised of 5 diverse cohorts with available blood-derived DNA methylation (DNAm) measured on the Illumina Epic BeadChip. The first risk score, exposure and methylation risk score (eMRS) used cumulative and childhood trauma exposure and DNAm variables; the second, methylation-only risk score (MoRS) was based solely on DNAm data; the third, methylation-only risk scores with adjusted exposure variables (MoRSAE) utilized DNAm data adjusted for the two exposure variables. The potential of these risk scores to predict future PTSD based on pre-deployment data was also assessed. External validation of risk scores was conducted in four independent cohorts. RESULTS: The eMRS model showed the highest accuracy (92%), precision (91%), recall (87%), and f1-score (89%) in classifying PTSD using 3730 features. While still highly accurate, the MoRS (accuracy = 89%) using 3728 features and MoRSAE (accuracy = 84%) using 4150 features showed a decline in classification power. eMRS significantly predicted PTSD in one of the four independent cohorts, the BEAR cohort (beta = 0.6839, p-0.003), but not in the remaining three cohorts. Pre-deployment risk scores from all models (eMRS, beta = 1.92; MoRS, beta = 1.99 and MoRSAE, beta = 1.77) displayed a significant (p < 0.001) predictive power for post-deployment PTSD. CONCLUSION: Results, especially those from the eMRS, reinforce earlier findings that methylation and trauma are interconnected and can be leveraged to increase the correct classification of those with vs. without PTSD. Moreover, our models can potentially be a valuable tool in predicting the future risk of developing PTSD. As more data become available, including additional molecular, environmental, and psychosocial factors in these scores may enhance their accuracy in predicting the condition and, relatedly, improve their performance in independent cohorts.

DNA methylation

Breast Cancer Risk Stratification in Black Women: Current Status and Potential Solutions to Improve Accuracy.

Breast cancer risk stratification models identify individuals at increased risk, allowing earlier screening than for those at average risk and potentially improving health outcomes. Due to the increasing rates of breast cancer in individuals aged <40 years, especially among Black females, the American College of Radiology now recommends all females initiate breast cancer risk assessment by age 25 years. Several breast cancer risk prediction models are readily available, including the Gail Model, Breast Cancer Surveillance Consortium Risk Calculator, BOADICEA, and Tyrer-Cuzick Model. However, because these models were primarily developed using data from White women of European ancestry, they may underestimate risk in Black women. Indeed, current evidence suggests that these models underpredict breast cancer risk among Black women, particularly those of African ancestry. Although cancer risk prediction models typically incorporate personal characteristics, family history of cancer, and hormonal and lifestyle factors, inherited breast cancer genes can also increase risk for breast cancer. Beyond monogenic inherited breast cancer genes that increase breast cancer risk, emerging data suggest that single nucleotide polymorphisms identified through genome-wide association studies (GWAS) may be used to generate polygenic risk scores, which may further refine breast cancer risk. However, GWAS data are also primarily gathered from European ancestry females, further reducing the ability to accurately stratify breast cancer risk in non-European ancestry populations. Current data highlight the importance of ensuring representation from all populations in developing cancer risk prediction models, conducting genomics research, and designing effective implementation strategies to enhance the use of these models in routine clinical care. Although new analytic methods and models are being developed to improve breast cancer risk stratification across populations, it remains critical to assess the utility and calibration of existing and new models to ensure applicability across non-European ancestry populations.

Humans

Predicting Weight Loss After Vertical Sleeve Gastrectomy Using a Whole-genome Sequencing-derived Polygenic Risk Score in the All of Us Cohort.

OBJECTIVE: To create a genome-wide polygenic risk score (PRS) to improve prediction of a 12-month percentage weight loss (WL) after vertical sleeve gastrectomy (VSG). BACKGROUND: Variability in post-VSG WL is not well explained by clinical factors. The All of Us program provides access to a 414,830 short-read whole-genome sequencing resource, enabling unbiased discovery of genetic predictors after VSG. METHODS: VSG counts, demographic, anthropomorphic and vital sign information were obtained from the linked electronic health record. The discovery cohort (DC) included participants from version 7 carried into version 8 while the validation cohort (VC) included those newly added to v8. We defined good responders and nonresponders as having WL&#xb1;1SD from the mean. Following quality filtering, we applied a 2-stage penalized-regression, followed by elastic-net logistic regression, to identify 1583 stable variants and derive &#x3b2;-weights. We then tested this PRS on the DC into a prediction model. RESULTS: We identified 395 participants in the DC and 336 participants in the VC, respectively. Of these, VSG, 44 were classified as good responders (&#x2265;37% WL) and 55 as nonresponders (&#x2264;19% WL). In the VC, 55 were classified as good responders and 48 as nonresponders. Adding the PRS to models to clinical predictors increased the area under the curve following logistic regression by 0.03; P <4.3 &#xd7; 10 -14 , random forest by 0.03; P <9.1 &#xd7; 10 -7 , decision tree by 0.05; P = 1.2 &#xd7; 10 -3 , and gradient boosting by 0.08; P <8.3 &#xd7; 10 -10 . CONCLUSIONS: Use of short-read whole-genome sequencing from All of Us (AoU) can be effectively used to generate PRS to enhance predictive WL accuracy. This work has implications for outcomes of both bariatric surgery and other surgical procedures.

Humans

Molecular genomic and epigenomic characteristics related to aspirin and clopidogrel resistance.

BACKGROUND: Mediators, genomic and epigenomic characteristics involving in metabolism of arachidonic acid by cyclooxygenase (COX) and lipoxygenase (ALOX) and hepatic activation of clopidogrel have been individually suggested as factors associated with resistance against aspirin and clopidogrel. The present multi-center prospective cohort study evaluated whether the mediators, genomic and epigenomic characteristics participating in arachidonic acid metabolism and clopidogrel activation could be factors that improve the prediction of the aspirin and clopidogrel resistance in addition to cardiovascular risks. METHODS: We enrolled 988 patients with transient ischemic attack and ischemic stroke who were evaluated for a recurrence of ischemic stroke to confirm clinical resistance, and measured aspirin (ARU) and P2Y12 reaction units (PRU) using VerifyNow to assess laboratory resistance 12 weeks after aspirin and clopidogrel administration. We investigated whether mediators, genotypes, and promoter methylation of genes involved in COX and ALOX metabolisms and clopidogrel activation could synergistically improve the prediction of ischemic stroke recurrence and the ARU and PRU levels by integrating to the established cardiovascular risk factors. RESULTS: The logistic model to predict the recurrence used thromboxane A synthase 1 (TXAS1, rs41708) A/A genotype and ALOX12 promoter methylation as independent variables, and, improved sensitivity of recurrence prediction from 3.4% before to 13.8% after adding the mediators, genomic and epigenomic variables to the cardiovascular risks. The linear model we used to predict the ARU level included leukotriene B4, COX2 (rs20417) C/G and thromboxane A2 receptor (rs1131882) A/A genotypes with the addition of COX1 and ALOX15 promoter methylations as variables. The linear PRU prediction model included G/A and prostaglandin I receptor (rs4987262) G/A genotypes, COX2 and TXAS1 promoter methylation, as well as cytochrome P450 2C19*2 (rs4244285) A/A, G/A, and *3 (rs4986893) A/A genotypes as variables. The linear models for predicting ARU (r&#x2009;=&#x2009;0.291, R2&#x2009;=&#x2009;0.033, p&#x2009;<&#x2009;0.01) and PRU (r&#x2009;=&#x2009;0.503, R2&#x2009;=&#x2009;0.210, p&#x2009;<&#x2009;0.001) levels had improved prediction performance after adding the genomic and epigenomic variables to the cardiovascular risks. CONCLUSIONS: This study demonstrates that different mediators, genomic and epigenomic characteristics of arachidonic acid metabolism and clopidogrel activation synergistically improved the prediction of the aspirin and clopidogrel resistance together with the cardiovascular risk factors. TRIAL REGISTRATION: URL: https://www. CLINICALTRIALS: gov ; Unique identifier: NCT03823274.

Humans

Contributions of Common, Rare, and Somatic Genetic Variants to Incidence of Atrial Fibrillation.

IMPORTANCE: Atrial fibrillation (AF) has a complex genetic architecture involving common, rare, and somatic variants. The association between these components requires further investigation. OBJECTIVE: To examine the individual and combined contributions of polygenic, monogenic, and somatic genetic variants to AF incidence, and develop an integrated genomic model (IGM-AF) for improved risk prediction. DESIGN, SETTING, AND PARTICIPANTS: This cohort study used whole-genome sequence data from participants of the UK Biobank, with follow-up for AF events through hospital records, death registries, and self-report. The UK Biobank recruited participants aged 40 to 69 years in the UK between 2006 and 2010. Study data were analyzed from August 2022 to November 2024. EXPOSURES: IGM-AF comprising an AF polygenic risk score (PRS), a composite rare variant gene set (AFgeneset), and somatic variants associated with clonal hematopoiesis of indeterminate potential (CHIP). Clinical AF risk was estimated using the Cohorts for Heart and Aging Research in Genomic Epidemiology AF (CHARGE-AF) score. MAIN OUTCOMES AND MEASURES: The primary outcome was hazard ratios (HRs) for 5-year incident AF attributable to PRS, AFgeneset, CHIP, and their interactions. The predictive performance of IGM-AF and its components was quantified using HRs, C statistics, and reclassification indices. RESULTS: A total of 416&#x202f;085 individuals (mean [SD] age, 56.6 [8.0] years; 224&#x202f;642 female [54.0%]) with 30&#x202f;797 AF cases were included. The PRS (HR per 1 SD, 1.65; 95% CI, 1.63-1.67; P&#x2009;<&#x2009;1&#x2009;&#xd7;&#x2009;10-8), AFgeneset (HR, 1.63; 95% CI, 1.52-1.75; P&#x2009;=&#x2009;1.46&#x2009;&#xd7;&#x2009;10-42), and CHIP (HR, 1.26; 95% CI, 1.15-1.38; P&#x2009;=&#x2009;1.41&#x2009;&#xd7;&#x2009;10-6) were associated with incident AF. The 5-year cumulative incidence of AF was at least 2-fold among individuals having all 3 genetic drivers (common, rare, and somatic drivers) compared with those with only 1 driver. Integration of IGM-AF with a clinical risk model (CHARGE-AF) showed higher predictive performance (C statistic, 0.80; 95% CI, 0.80-0.80) compared with IGM-AF and CHARGE-AF alone. The classification of the at-risk population for AF was improved when IGM-AF was added to CHARGE-AF (net reclassification index, 0.08; 95% CI, 0.07-0.09). CONCLUSIONS AND RELEVANCE: Results of this cohort study demonstrated the complementary value of common, rare, and somatic variants in shaping genomic AF risk. Leveraging comprehensive genetic information may enhance screening and preventive interventions for AF.

Humans

Prediction of metabolic syndrome using machine learning approaches based on genetic and nutritional factors: a 14-year prospective-based cohort study.

INTRODUCTION: Metabolic syndrome is a chronic disease associated with multiple comorbidities. Over the last few years, machine learning techniques have been used to predict metabolic syndrome. However, studies incorporating demographic, clinical, laboratory, dietary, and genetic factors to predict the incidence of metabolic syndrome in Koreans are limited. In the present study, we propose a genome-wide polygenic risk score for the prediction of metabolic syndrome, along with other factors, to improve the prediction accuracy of metabolic syndrome. METHODS: We developed 7 machine learning-based models and used Cox multivariable regression, deep neural network (DNN), support vector machine (SVM), stochastic gradient descent (SGD), random forest (RAF), Na&#xef;ve Bayes (NBA) classifier,&#xa0;and AdaBoost (ADB) to predict the incidence of metabolic syndrome at year 14 using the dataset from the Korean Genome and Epidemiology Study (KoGES) Ansan and Ansung. RESULTS: Of the 5440 patients, 2,120 were considered to have new-onset metabolic syndrome. The AUC values of model, which included sex, age, alcohol intake, energy intake, marital status, education status, income status, smoking status, dried laver intake, and genome-wide polygenic risk score (gPRS)&#xa0;Z-score based on 344,447 SNPs (p-value&#x2009;<&#x2009;1.0), were the highest for RAF (0.994 [95% CI 0.985, 1.000]) and ADB (0.994 [95% CI 0.986, 1.000]). CONCLUSIONS: Incorporating both gPRS and demographic, clinical, laboratory, and seaweed data led to enhanced metabolic syndrome risk prediction by capturing the distinct etiologies of metabolic syndrome development. The RAF- and ADB-based models predicted metabolic syndrome more accurately than the NBA-based model for the Korean population.

Humans

Multi-Polygenic prediction of Frailty and its Trajectories highlights Chronic Pain, Rheumatoid Arthritis, and Educational Attainment pathways.

Frailty is a complex ageing-related trait with a growing evidence base for genetic influence. While a single polygenic score (PGS) for frailty has shown predictive value, few studies have examined the joint effect of multiple genetic risks. This study used a multi-polygenic score (MPS) approach to evaluate the combined and relative contributions of 26 PGSs to frailty, measured via the Frailty Index (FI), in two UK cohorts aged 65 and older: the English Longitudinal Study of Ageing (ELSA) and the Lothian Birth Cohort 1936 (LBC1936). Using elastic net regression with repeated cross-validation, we identified chronic pain and depressive symptoms PGSs as the strongest risk predictors of cross-sectional frailty status, while educational attainment, parental longevity, and rheumatoid arthritis PGSs were protective. Compared to single PGS models, MPS models provided improved prediction of frailty levels, explaining up to 4.7% of variance in frailty status - an improvement over the best single PGS (2.5%). To assess whether PGSs also predicted longitudinal frailty progression, we applied generalized additive mixed models (GAMMs) to model age-related trajectories. In ELSA, five PGSs (chronic pain, depressive symptoms, rheumatoid arthritis, educational attainment, and parental death) significantly interacted with age, influencing the rate of frailty change. In LBC1936, consistent though weaker effects were observed for chronic pain and education PGSs. These findings show that polygenic liability shapes both frailty levels and trajectories in later life. Our results support the use of multi-trait genomic models to improve risk prediction and understanding of frailty's complex aetiology.

Journal Article

Genome-wide association, polygenic risk scores, and machine learning for chronic post-surgical pain risk stratification: A UK biobank study.

Chronic post-surgical pain is a prevalent and debilitating complication following surgery, representing a clinical challenge. Despite the established heritability of pain phenotypes, large-scale genetic studies remain limited. This study aimed to identify genetic variants associated with chronic post-surgical pain, develop polygenic risk scores, and integrate these with clinical features for risk prediction. UK Biobank data from 47,836 participants (2490 cases and 45,346 controls) were split into training (80%; n = 38,268) and validation (20%; n = 9568) sets prior to analysis. A genome-wide association study was conducted on the training set only, across 19 million variants, and polygenic risk scores were constructed and integrated with clinical features in a logistic regression framework. Two close, rare, imputed signals crossed the genome-wide significance threshold but lacked local linkage-disequilibrium support, while 220 variants crossed the suggestive threshold. In the held-out validation set, cases had higher mean polygenic risk scores than controls (0.138 vs. -0.021; Cohen's d = 0.16, p < 0.001). A logistic regression model integrating clinical features and polygenic risk scores achieved an area under the curve of 0.639 (95% CI: 0.583-0.693), higher than models using either feature set alone. The polygenic risk score for chronic post-surgical pain was among the most important predictors. Risk stratification revealed the top quartile had 3.84-fold higher odds of chronic post-surgical pain than the bottom quartile (95% CI: 2.00-7.37). These findings suggest a possible modest genetic contribution to chronic post-surgical pain. Polygenic risk scores may complement clinical factors in surgical risk stratification. PERSPECTIVE: Chronic post-surgical pain may have a modest genetic contribution. This UK Biobank study identified over 220 variants at suggestive significance and constructed a polygenic risk score that was significantly elevated in cases. A combined clinical-genomic model achieved a 3.84-fold difference in odds across predicted-risk quartiles.

Chronic post-surgical pain

Integrated multi-omic profiling enables recurrence risk stratification beyond pathological stage in resected EGFR-mutant lung adenocarcinoma.

BACKGROUND: Early-stage EGFR-mutant lung adenocarcinoma (LUAD) demonstrates heterogeneous outcomes after curative surgery, yet adjuvant treatment decisions are guided by pathological stage alone. Following the ADAURA trial, adjuvant osimertinib is the standard of care for resected stage IB-IIIA EGFR-mutant LUAD; however, real-world data demonstrate that up to 40% of patients remain disease-free at five years without adjuvant osimertinib, underscoring the need for improved risk stratification. PATIENTS AND METHODS: We performed integrated clinical, genomic and transcriptomic profiling of 400 patients with resected stage IA-IIIA EGFR-mutant LUAD. EGFR-mutant recurrence risk models integrating clinical, genomic and transcriptomic data were developed and validated across one internal and three external cohorts. RESULTS: Genomic instability, including TP53 co-mutations, copy number alterations and APOBEC-associated mutational signatures, increased with pathological stage. RBM10 co-mutations were enriched in tumours with L858R mutations and correlated with upregulation of WNT signalling and epithelial-mesenchymal transition. Transcriptomic features outperformed clinical or genomic variables alone in predicting recurrence risk, and a multi-omic model demonstrated superior and reproducible performance, achieving a median concordance index of 75.4% across four independent validation cohorts. The multi-omic model stratified recurrence risk within individual pathological stages, including stage I disease, and identified patients most likely to benefit from adjuvant EGFR TKI. CONCLUSIONS: These findings define the molecular heterogeneity of early-stage EGFR-mutant LUAD and support multi-omic risk stratification to inform adjuvant EGFR TKI decisions beyond pathological stage. Prospective validation in larger cohorts will be required to confirm these findings.

Journal Article

Artificial intelligence in kidney cancer: a review of clinical applications across the disease spectrum.

PURPOSE OF REVIEW: This review examines recent advances (2024-2025) in the application of artificial intelligence (AI) to kidney cancer diagnosis, prognosis, and treatment planning. It categorizes studies across 13 clinical scenarios to assess where AI offers the most clinical utility. RECENT FINDINGS: AI models have demonstrated strong performance in a range of tasks including tumor grading, subtype classification, survival prediction, and risk stratification. Integration of radiomics, genomics, and histopathology has enabled personalized, noninvasive, and timely decision-making. The highest-performing models used CT-based radiomics, particularly for predicting progression-free and recurrence-free survival. However, performance varies across tasks and tumor subtypes, with lower accuracy in detecting oncocytomas or benign vs. malignant differentiation. AI applications in metastatic and nonresected cases remain underexplored, and ultrasound remains a largely under researched modality. While some models improve diagnostic accuracy and workflow efficiency, broader validation across diverse populations is still needed. SUMMARY: AI is transforming kidney cancer care across multiple clinical stages. Although promising, real-world implementation demands ongoing validation and postdeployment monitoring to prevent performance degradation due to distributional drift. AI's integration with multimodal data offers substantial potential to improve outcomes and reduce overtreatment.

Humans

Novel Protein-Altering Variants in Cleft Genes Transmitted in Families With NSCL&#xb1;P.

BACKGROUND: Pathogenic protein-altering variants play a role in the etiology of nonsyndromic cleft lip with or without palate (nsCL&#xb1;P), one of the most common craniofacial anomalies. However, the genetic basis of many cases remains unclear, complicating risk prediction for affected families. PURPOSE: This study utilized whole-genome sequencing (WGS) of 150 case-families with nsCL&#xb1;P from sub-Saharan Africa to identify pathogenic risk variants. STUDY DESIGN, SETTING, SAMPLE: This study utilized whole-genome sequencing (WGS) of 150 case-families with nsCL&#xb1;P from sub-Saharan Africa to identify risk variants. PREDICTOR/EXPOSURE/INDEPENDENT VARIABLE: Genetic variants. MAIN OUTCOME VARIABLES: Nonsyndromic cleft lip with or without palate (nsCL&#xb1;P). ANALYSES: Genomes were sequenced at a mean &#xd7;30 coverage, and variants were prioritized using CADD (&#x2265;20), REVEL (&#x2265;0.5), and ACMG/AMP clinical significance criteria. RESULTS: We identified pathogenic protein-altering variants in CHD7 (p.Arg1345His), LRP2 (p.Asp3245Asn), RYR1 (p.Arg2163Leu, p.Pro2903Thr), SHH (p.Met114Val), and WNT3 (p.Ser112Pro) highlighting the role of hedgehog signaling pathway (FDR=5.32e-12) in nsCL&#xb1;P. These variants were inherited from unaffected parents suggesting an incomplete penetrance of the variant effect. Although mouse data showed that knockout of these genes produces cleft phenotypes, in vivo studies will help us better understand how the consequences of these variants differ from benign mutations. The presence of these protein-altering variants in unaffected parents-incomplete penetrance, provides additional evidence supporting the trait complexity. CONCLUSIONS AND RELEVANCE: This study identified rare, pathogenic protein-altering variants in genes involved in key developmental pathways in African families affected by nsCL&#xb1;P. These findings highlight the critical role of the hedgehog signaling pathway and related networks in the etiology of nsCL&#xb1;P. These findings underscore the importance of whole-genome sequencing in genetically diverse populations to uncover novel risk variants. These findings enhance our understanding of the genetic etiology of nsCL&#xb1;P, particularly in under-represented African populations and support the multifactorial inheritance and the involvement of developmental pathways, such as hedgehog signaling in the etiology of clefting.

Humans

Polygenic Risk Scores Predicting Estimated GFR Validated With Iohexol Clearance.

INTRODUCTION: Genome-wide association studies (GWAS) have identified hundreds of single nucleotide variants (SNVs) associated with estimated glomerular filtration rate (eGFR). eGFR has been used as a proxy phenotype because of the complexity and cost of measured GFR (mGFR) in large studies. Because eGFR is influenced by non-GFR factors, these GWAS results may be biased compared with a hypothetical study using mGFR. We aimed to investigate this by comparing aggregate measures of genetic effects on mGFR and eGFR. METHODS: We studied 1492 persons from the Renal Iohexol Clearance Survey (RENIS) cohort, a representative sample of the general population in Northern Norway without preexisting cardiovascular disease, kidney disease, or diabetes. We measured iohexol-clearance, and genotyping was performed with a microarray chip enriched for GFR-related SNVs. We compared the performance of 3 published polygenic risk scores (PGS) developed for creatinine-based eGFR (eGFRcr), narrow-sense heritability (h2) and the mean effect of SNVs on mGFR, eGFRcr, cystatin C-based eGFR (eGFRcys) and eGFRcr-cys. RESULTS: The performance of the PGS differed for mGFR and the 3 eGFRs, with best performance for prediction of eGFRcr (P < 0.05). However, when the beta coefficients of the SNVs in the 3 PGS were estimated in the RENIS-cohort, their magnitude was 11% to 46% greater for mGFR than for the 3 eGFR methods in 8 of 9 comparisons (P < 0.05). mGFR had higher h2 (0.47) than eGFRcr (0.21), eGFRcys (0.37), and eGFRcr-cys (0.42). CONCLUSIONS: SNVs with non-GFR effects on creatinine and cystatin-C influence GWAS results. The results of GWAS using eGFR should be validated using experimental and other more precise methods.

chronic kidney disease

Genetic Susceptibility to Incisional Hernia Evaluation of Hernia Polygenic Risk Scores.

OBJECTIVES: Incisional hernia (IH) affects 13-30% of people after abdominal surgery, resulting in substantial morbidity and costs. While clinical risk factors have been studied extensively, genomic risk for IH is incompletely understood. We aimed to evaluate the impact of polygenic risk scores (PRS) on IH risk prediction. METHODS: We created and evaluated three PRS for abdominal hernia, ventral hernia and latent hernia susceptibility for prediction of IH in an institutional biobank. The primary outcome was defined as the diagnosis or repair of an IH based on ICD-9/10-CM/PCS and CPT codes. Clinical covariates included age, sex, body mass index (BMI), smoking status, index procedure type, and perioperative surgical site infection. A phenome-wide association study (PheWAS) was performed to assess clinical associations with increased PRS. We then tested the ability of the PRS to improve prediction for IH by modeling clinical covariates with and without PRS in patients who underwent abdominal surgery. Model performance was assessed using 10 iterations of 5-fold cross-validation to estimate Brier scores and area under the receiver operating characteristic curve (AUROC), which were compared using cross-model Bayesian analysis of variance. RESULTS: In 55,809 subjects, assessed PRS was significantly associated with incisional, umbilical, and ventral hernia on PheWAS, with 1.19 greater odds of developing IH per 1-SD increase in PRS (95% CI: 1.13-1.25, P < 0.001). Of 9,909 subjects who underwent qualifying abdominal surgery, 706 developed IH. In this cohort, the latent hernia susceptibility PRS was associated with a 16% increased hazard of developing IH per 1-SD increase (HR 1.16; 95% CI: 1.07-1.26; P < 0.001). Compared to a predictive model using clinical covariates (Brier score = 0.047, 95% CI: 0.046-0.048; AUROC = 0.660, 95% CI: 0.653-0.666), addition of the PRS showed similar Brier score and AUROC estimates (Brier score = 0.047, 95% CI: 0.046-0.048; AUROC: 0.667, 95% CI: 0.661-0.673) at five years. Cross-model Bayesian analysis demonstrated >99% probability of practical equivalence when trying to detect a difference of &#x2265; 0.02. CONCLUSION: All three PRS for hernia were independently associated with IH, suggesting that genomic factors contribute significantly to IH development. However, none of the three PRS meaningfully improved clinical IH risk prediction in patients who underwent abdominal surgery. This suggests that clinical comorbidities and surgical techniques may be equally as important as genomic architecture.

Bayesian analysis