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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.

168,742 papers · 148 categories

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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.

A computationally simple genome-wide association study (GWAS) algorithm for estimating the main and epistatic effects of markers or single nucleotide polymorphisms (SNPs) is proposed. It is based on the intuitive assumption that changes of alleles corresponding to important SNPs in a pair of individuals lead to large d…

2017-08-05abs ↗pdf ↗

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.

We detail distributed algorithms for scalable, secure multiparty linear regression and feature selection at essentially the same speed as plaintext regression. While the core geometric ideas are simple, the recognition of their broad utility when combined is novel. Our scheme opens the door to efficient and secure geno…

2019-01-28abs ↗pdf ↗

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.

Causal inference from observational data often assumes "ignorability," that all confounders are observed. This assumption is standard yet untestable. However, many scientific studies involve multiple causes, different variables whose effects are simultaneously of interest. We propose the deconfounder, an algorithm that…

2018-05-17abs ↗pdf ↗

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 ↗

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.

Progress in probabilistic generative models has accelerated, developing richer models with neural architectures, implicit densities, and with scalable algorithms for their Bayesian inference. However, there has been limited progress in models that capture causal relationships, for example, how individual genetic factor…

2017-10-30abs ↗pdf ↗

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.

We propose a method for simultaneously detecting shared and unshared communities in heterogeneous multilayer weighted and undirected networks. The multilayer network is assumed to follow a generative probabilistic model that takes into account the similarities and dissimilarities between the communities. We make use of…

2018-06-16abs ↗pdf ↗