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Biology subjects

Mondelli, M.

Publications and source records attributed to Mondelli, M..

2 recordsLinked to original sources

Joint Variable Selection for Omic Biomarkers in Time-to-Event Data

The incidence of the vast majority of neurodegenerative, cancer, and metabolic diseases generally increases exponentially with age. In large-scale biobanks, linking time-to-diagnosis information in electronic health records to multiple genomic ("multiomics") measures has the potential to reveal the genes and biological pathways involved in the disease onset and progression. To date, association testing has commonly been conducted by testing one variable at a time using semiparametric Cox proportional hazards (CoxPH) models, which ignores correlation structure and increases the risk of false discoveries. To address these issues, we introduce a novel fully parametric Bayesian computational method, vampW, based on the Vector Approximate Message Passing framework applied to a Weibull model. vampW jointly models correlated features, while providing an interpretable hazard structure, producing a continuous survival curve, and incorporating prior knowledge. In an extensive simulation study, we demonstrate that joint modeling of omics data and time-to-event outcomes with vampW, substantially reduces false discoveries in comparison to marginal testing and other forms of joint CoxPH models. In 53,018 individuals from the UK Biobank, vampW identifies 219 protein associations with 24 disease outcomes, most of which are not among the top marginal discoveries. We further correct protein levels for exponential age effects, identifying 1,308 associations and highlighting the sensitivity of the analysis to age-correction methodology. Our findings replicate in independent cohorts using different measurement technologies, within data from Iceland and a novel Generation Scotland proteomics dataset. vampW also achieves significant improvement in the prediction of disease onset times: across 14 outcomes, it reduces the root mean squared error by over 32% and 26%, when compared to CoxPH variants and the deep learning approach DeepSurv, respectively, while maintaining predictive utility in minority populations. In summary, vampW offers accurate and interpretable variable selection and out-of-sample prediction within a single computational framework, making it a powerful tool for dissecting the genomic architecture of common complex disease onset.

bioinformatics↗

Light-speed Inference of Genetic Effects via Approximate Message Passing

Human height is a model for the genetic analysis of complex traits, and recent studies suggest the presence of thousands of common genetic variant associations and hundreds of low-frequency/rare variants. Here, we develop a new algorithmic paradigm based on approximate message passing, gVAMP, for identifying DNA sequence variants associated with complex traits and common diseases in large-scale whole genome sequence (WGS) data. We show that gVAMP accurately localizes associations to variants with the correct frequency and position in the DNA, outperforming existing fine-mapping methods in selecting the appropriate genetic variants within WGS data. We then apply gVAMP to jointly model the relationship of tens of millions of WGS variants with human height in hundreds of thousands of UK Biobank individuals. We identify 59 rare variants and gene burden scores alongside many hundreds of DNA regions containing common variant associations, and show that understanding the genetic basis of complex traits will require the joint analysis of hundreds of millions of variables measured on millions of people. The polygenic risk scores obtained from gVAMP have high accuracy (including a prediction accuracy of [~] 46% for human height) and outperform current methods for downstream tasks such as mixed linear model association testing across 13 UK Biobank traits. In conclusion, gVAMP offers a scalable foundation towards a wider range of analyses in WGS data.

genetics↗