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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.

168,657 papers · 148 categories

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25507499 · Jun 202019922001200920172026
48 results for genomic perturbation

BioBO optimizes gene perturbation design using Bayesian optimization with biological priors.

problem Efficient design of genomic perturbation experiments in drug discovery.
method Integrates Bayesian optimization with multimodal gene embeddings and enrichment analysis.
result Improves labeling efficiency by 25-40% and identifies top-performing perturbations more effectively.

New method for selective prediction under interventions learns causal structure from data.

problem Tight uncertainty sets in selective conformal prediction under unknown interventional settings.
method Partial causal structure learning for descendant indicators, contamination-robust coverage theorem, algorithms for descendant discovery and distance estimation.
result Valid selective conformal prediction under contamination up to 30% with controlled coverage.

Generative Intervention Models predict perturbation effects without knowing the underlying mechanisms.

problem Predicting perturbation effects when the mechanisms are unknown.
method Generative Intervention Models (GIM) that map perturbation features to distributions over atomic interventions in a causal model.
result GIMs achieve robust out-of-distribution predictions and infer underlying perturbation mechanisms.

The paper develops methods for causal inference from single-cell RNA sequencing data with multiple outcomes.

problem Causal inference from single-cell RNA sequencing data with multiple heterogeneous outcomes.
method Generic semiparametric inference framework for doubly robust estimation with multiple derived outcomes.
result Demonstrates the use of semiparametric inferential results for estimating causal effects in genomics.

ContrastiveVI+ models CRISPR screens with noisy guide efficiency.

problem Noisy guide efficiency in CRISPR screens.
method Generative modeling framework that disentangles perturbation-induced from shared variations.
result ContrastiveVI+ better recovers perturbation-induced variations and identifies cells without edits.

Building and expanding on principles of statistics, machine learning, and scientific inquiry, we propose the predictability, computability, and stability (PCS) framework for veridical data science. Our framework, comprised of both a workflow and documentation, aims to provide responsible, reliable, reproducible, and tr…

2019-01-23abs ↗pdf ↗

Paper proposes efficient methods for high-order clustering in tensor block models.

problem High-order clustering of multiway datasets in neuroimaging, genomics, etc.
method Tensor block model and computationally efficient algorithms (HLloyd, HSC)
result Achieves high-order exact clustering with statistical optimality and computational efficiency.

Elastic co-clustering improves clustering of single-cell genomic data.

problem Improving clustering performance of single-cell genomic datasets.
method Elastic coupled co-clustering in an unsupervised transfer learning framework.
result Our algorithm significantly improves clustering performance over traditional methods.

GROOVE learns representations for weakly paired multimodal data.

problem Learning representations for high-content perturbation data with weakly paired samples.
method GroupCLIP contrastive loss integrated with an autoencoder framework.
result GROOVE performs on par with or outperforms existing approaches for cross-modal tasks.

Robust machine learning models improve DNA regulatory sequence prediction under various shifts.

problem Real-world applications of DNA regulatory sequence prediction involve shifts not captured by standard i.i.d. assumptions.
method Introduces a robustness framework combining simulation benchmarks and real data analysis.
result Models remain accurate and calibrated under mild shifts but show higher error and miscalibration under strong shifts.

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 ↗

Integrative analysis of disparate data blocks measured on a common set of experimental subjects is a major challenge in modern data analysis. This data structure naturally motivates the simultaneous exploration of the joint and individual variation within each data block resulting in new insights. For instance, there i…

2017-04-07abs ↗pdf ↗

Copula-based fusion improves breast cancer risk stratification.

problem Combining clinical and genomic risk scores using simple rules fails to capture their joint relationship.
method Used copulas to model the joint relationship between clinical and genomic risk scores.
result Copula-based fusion improves risk stratification, identifying subgroups with the worst prognosis.

Personalizing drug prescriptions in cancer care based on genomic information requires associating genomic markers with treatment effects. This is an unsolved challenge requiring genomic patient data in yet unavailable volumes as well as appropriate quantitative methods. We attempt to solve this challenge for an experim…

2019-12-24abs ↗pdf ↗

In this paper we propose network methodology to infer prognostic cancer biomarkers based on the epigenetic pattern DNA methylation. Epigenetic processes such as DNA methylation reflect environmental risk factors, and are increasingly recognised for their fundamental role in diseases such as cancer. DNA methylation is a…

2015-06-17abs ↗pdf ↗

Paper proposes scalable method for analyzing multi-omic data.

problem Integrating high-dimensional multi-omic data for cancer subtyping.
method Mixed graphical model approach using Birth-Death MCMC algorithm.
result Our method outperforms LASSO and standard BDMCMC in computational efficiency and model selection accuracy.

SENA-discrepancy-VAE interprets latent causal factors in biological pathways.

problem Interpreting latent causal factors in biological pathways.
method SENA-discrepancy-VAE, a model based on discrepancy-VAE, that produces interpretable latent causal factors.
result Sena-discrepancy-VAE achieves comparable predictive performance with non-interpretable counterparts while providing biologically meaningful causal factors.

Understanding functional organization of genetic information is a major challenge in modern biology. Following the initial publication of the human genome sequence in 2001, advances in high-throughput measurement technologies and efficient sharing of research material through community databases have opened up new view…

2011-02-27abs ↗pdf ↗

fiBAG integrates multiplatform genomic data to identify disease markers.

problem Understanding complex mechanisms underlying human diseases from multiplatform genomic data.
method fiBAG uses Gaussian process models and Bayes factors to identify functional evidence and guide variable selection.
result fiBAG improves detection of disease-related markers compared to non-integrative methods.

We consider the task of detecting regulatory elements in the human genome directly from raw DNA. Past work has focused on small snippets of DNA, making it difficult to model long-distance dependencies that arise from DNA's 3-dimensional conformation. In order to study long-distance dependencies, we develop and release …

2017-10-03abs ↗pdf ↗

Local ancestry inference (LAI) allows identification of the ancestry of all chromosomal segments in admixed individuals, and it is a critical step in the analysis of human genomes with applications from pharmacogenomics and precision medicine to genome-wide association studies. In recent years, many LAI techniques have…

2019-11-27abs ↗pdf ↗

PKB framework boosts genomic data analysis by integrating pathway knowledge.

problem Boosting discovery power and connecting new findings with biological mechanisms in genomic data.
method Pathway-based Kernel Boosting (PKB) framework integrating clinical and pathway information for prediction of various outcomes.
result PKB substantially outperforms other methods in predicting drug response and cancer survival.

Machine learning accurately diagnoses cancer from whole genome sequencing data.

problem Accurate cancer diagnosis at all stages.
method Novel MLAC (Machine Learning Against Cancer) method using next-gen RNA sequencing.
result Perfect precision, sensitivity, and specificity achieved for most tumor types.

Discriminative neural networks offer little or no performance guarantees when deployed on data not generated by the same process as the training distribution. On such out-of-distribution (OOD) inputs, the prediction may not only be erroneous, but confidently so, limiting the safe deployment of classifiers in real-world…

2019-06-07abs ↗pdf ↗

Proposes a copula-based model for multi-view clustering with directional dependency.

problem Challenges in integrating multi-source datasets with directional dependency.
method Copula-based multi-view clustering model accounting for directional dependence.
result Ignoring directional dependence negatively impacts clustering performance.