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arXiv research

A locally-built, LLM-digested index of recent arXiv papers in quant finance, geometry/topology, and statistical ML — keyword search served straight from SQLite on this machine.

169,181 papers · 148 categories

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203407610813 · Jun 202019922001200920182026
48 results for Genome-wide association studies

ParKCa combines multiple causal inference methods to infer new causes from known and unknown factors.

problem Causal inference from observational data when randomized experiments are not feasible.
method ParKCa uses a stacking approach to combine results from multiple causal inference methods.
result ParKCa infers more causes than existing methods in real-world and simulated datasets.

Method clusters SNPs to improve detection of disease-associated variants.

problem Over-conservative SNP-wise approach in GWASs.
method Model-based clustering of SNPs into three clusters, borrowing information across SNPs.
result Proposed method outperforms traditional SNP-wise approach in controlling false discovery rate and sensitivity.

New methods improve genetic studies of complex diseases.

problem Improving genetic studies of complex diseases using high-dimensional clinical data.
method Evaluation of unsupervised disentangled representation learning methods (autoencoders, VAE, beta-VAE, FactorVAE) for genetic association studies.
result FactorVAEs and beta-VAEs outperform standard VAEs and non-variational autoencoders in genetic studies of asthma and COPD.

Bayesian method for robust causal inference using many-dimensional instrumental variables.

problem Intractable model space and uncertainty in selecting valid instrumental variables.
method Bayesian model averaging over promising instrumental variable models with weaker assumptions.
result Efficient and robust causal effect estimation in many-dimensional data.

Proposes a two-stage method for testing variable interactions with FDR control.

problem Testing pairwise interactions in high-dimensional data with dependence.
method Two-stage testing procedure with FDR control using Cramér type moderate deviation technique.
result The proposed method controls FDR and has comparable or improved statistical power.

LEARNER improves low-rank matrix estimation using source population data.

problem Improving low-rank matrix estimation in target populations with diverse data sources.
method LEARNER uses similarity in latent spaces between source and target populations to enhance estimation.
result LEARNER often outperforms benchmark methods, especially with higher signal-to-noise ratios in the source population.

An approach for learning ancestral causal relationships in high dimensions, validated on human genome-wide data.

problem Learning ancestral causal relationships in high-dimensional biological data.
method Supervised learning approach with discrete indicators treated as labels, scalable to large problems.
result The approach is highly effective and scalable to the human genome-wide setting, robust to perturbations of input information.

L1L_1 regularized logistic regression has now become a workhorse of data mining and bioinformatics: it is widely used for many classification problems, particularly ones with many features. However, L1L_1 regularization typically selects too many features and that so-called false positives are unavoidable. In this pape…

2014-10-25abs ↗pdf ↗

Proposes spBART for risk prediction using epigenetic signatures and covariates.

problem Complex high-dimensional epigenetic data and low-dimensional covariates for risk prediction.
method Semi-parametric Bayesian Additive Regression Trees (spBART) with cross-validation for variable selection.
result Achieves strong out-of-sample discrimination (AUC = 0.96) in held-out validation set.

With the wealth of high-throughput sequencing data generated by recent large-scale consortia, predictive gene expression modelling has become an important tool for integrative analysis of transcriptomic and epigenetic data. However, sequencing data-sets are characteristically large, and previously modelling frameworks …

2015-07-21abs ↗pdf ↗

With different genomes available, unsupervised learning algorithms are essential in learning genome-wide biological insights. Especially, the functional characterization of different genomes is essential for us to understand lives. In this book chapter, we review the state-of-the-art unsupervised learning algorithms fo…

2015-08-03abs ↗pdf ↗

SAERMA combines deep learning and rule mining to identify SNP interactions.

problem Identifying significant SNPs and their interactions in complex diseases.
method Stacked Autoencoder Rule Mining Algorithm (SAERMA) integrating deep learning and association rule mining.
result Achieved high classification accuracy (77% AUC, 77% SE, 68% SP) with 100 units.

Enhances FDR control in variable selection using neural networks.

problem Balancing rigorous error control with statistical power in high-dimensional variable selection.
method Learning-augmented T-Rex Selector framework with a neural network trained on synthetic datasets.
result Achieves superior detection of true variables compared to existing approaches.

New method learns parameter groups and structures in multi-response models.

problem Discovering unknown grouping structures in multi-response models.
method Proposes two convex regularization formulations and optimization approaches.
result Validated on simulations and real datasets, providing more accurate parameter estimation.

Constrained least squares regression is an essential tool for high-dimensional data analysis. Given a partition G\mathcal{G} of input variables, this paper considers a particular class of nonconvex constraint functions that encourage the linear model to select a small number of variables from a small number of groups …

2014-10-27abs ↗pdf ↗

When performing regression on a dataset with pp variables, it is often of interest to go beyond using main linear effects and include interactions as products between individual variables. For small-scale problems, these interactions can be computed explicitly but this leads to a computational complexity of at least $…

2016-10-17abs ↗pdf ↗

Develops methods for GWAS of high dimensional phenotypes using summary statistics.

problem Lack of methods to model pleiotropy in multi-phenotype GWAS.
method Bayesian inference model using summary statistics, fast computation, and biologically informed priors.
result Demonstrates utility in metabolite GWAS with interpretable pathway-level inference.

In high-dimensional linear models, the sparsity assumption is typically made, stating that most of the parameters are equal to zero. Under the sparsity assumption, estimation and, recently, inference have been well studied. However, in practice, sparsity assumption is not checkable and more importantly is often violate…

2016-10-07abs ↗pdf ↗

T-Rex selector selects variables fast and controls FDR in high-dimensional data.

problem Variable selection in high-dimensional data with FDR control.
method Fused solutions of early terminated random experiments.
result FDR control at target level with high variable selection power.

New method reduces memory usage for high-dimensional variable selection.

problem Scalability issues in high-dimensional variable selection, especially in genomics.
method Adaptive sampling of null features to eliminate dummy matrix materialization.
result Reduces memory and runtime by several orders of magnitude while preserving FDR control.