Elucidating the genetic basis of human diseases is a central goal of genetics and molecular biology. While traditional linkage analysis and modern high-throughput techniques often provide long lists of tens or hundreds of disease gene candidates, the identification of disease genes among the candidates remains time-con…
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48 results for “gene prioritization”
This work proposes a unified framework to leverage biological information in network propagation-based gene prioritization algorithms. Preliminary results on breast cancer data show significant improvements over state-of-the-art baselines, such as the prioritization of genes that are not identified as potential candida…
A variety of methods have been proposed for interpreting nodes in deep neural networks, which typically involve scoring nodes at lower layers with respect to their effects on the output of higher-layer nodes (where lower and higher layers are closer to the input and output layers, respectively). However, we may be inte…
VEGN uses graph neural networks to predict disease-causing mutations from genetic variants.
problem Identifying disease-causing mutations from millions of genetic variants.
method VEGN employs a graph neural network on a heterogeneous graph of genes and variants, learning gene-gene interactions.
result VEGN outperforms existing state-of-the-art models in variant effect prediction.
Towards Probabilistic Generative Models Harnessing Graph Neural Networks for Disease-Gene Predictioncs.LG
Disease-gene prediction (DGP) refers to the computational challenge of predicting associations between genes and diseases. Effective solutions to the DGP problem have the potential to accelerate the therapeutic development pipeline at early stages via efficient prioritization of candidate genes for various diseases. In…
When Stability Fails: Hidden Failure Modes Of LLMS in Data-Constrained Scientific Decision-Makingcs.LG
LLMs fail to match statistical ground truth despite stable run-to-run performance.
problem LLMs lack validation against statistical ground truth in automated scientific workflows.
method Introduced a behavioral evaluation framework for LLMs, separating four decision-making dimensions.
result LLMs can exhibit near-perfect stability but diverge from statistical ground truth.
We propose a novel hierarchical model for multitask bipartite ranking. The proposed approach combines a matrix-variate Gaussian process with a generative model for task-wise bipartite ranking. In addition, we employ a novel trace constrained variational inference approach to impose low rank structure on the posterior m…
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.
There is a growing need for fast and accurate methods for testing developmental neurotoxicity across several chemical exposure sources. Current approaches, such as in vivo animal studies, and assays of animal and human primary cell cultures, suffer from challenges related to time, cost, and applicability to human physi…
AI-driven sales prioritization boosts renewal bookings by 8.08%.
problem Manual sales account prioritization is inefficient and under-invested.
method Developed an AI-based Account Prioritizer using machine learning and explanation algorithms.
result Generated a +8.08% increase in renewal bookings.
A new method prioritizes and recycles experiences for better reinforcement learning.
problem Improving reinforcement learning efficiency by prioritizing and recycling experiences.
method Double-prioritized state-recycled (DPSR) experience replay.
result DPSR achieved state-of-the-art results in Atari games, outperforming original and prioritized methods.
New method combines ensembling and regularization for genomic disease prediction.
problem Genomic diseases require accurate prediction and biomarker identification.
method Integrates regularization with ensembling techniques for high-dimensional binary classification.
result Identifies critical biomarkers overlooked by competing methods.
Bayesian optimization improves classifier selection for acute infection and mortality.
problem Improving accuracy of acute infection and mortality prediction.
method Comparison of hyperparameter optimization methods (grid search, random sampling, Bayesian optimization).
result Bayesian optimization outperforms grid search or random sampling for in-hospital mortality classifiers.
ReaPER improves learning efficiency by prioritizing reliable experiences.
problem Inefficient sampling of past experiences in reinforcement learning.
method Introducing a novel measure of reliability to prioritize experiences in PER.
result ReaPER outperforms PER in various environments, including Atari-10.
A new method uses gene interaction networks to predict gene functions.
problem Predicting gene functions from gene interactions.
method Context graph kernel approach in a machine learning framework.
result The proposed method outperforms linkage-assumption-based methods.
RATE metrics evaluate treatment prioritization rules, subsuming existing methods.
problem Comparing and testing the quality of treatment prioritization rules.
method Rank-weighted average treatment effect (RATE) metrics.
result RATE metrics enable asymptotically exact inference in various study settings.
Experience replay is widely used in deep reinforcement learning algorithms and allows agents to remember and learn from experiences from the past. In an effort to learn more efficiently, researchers proposed prioritized experience replay (PER) which samples important transitions more frequently. In this paper, we propo…
Bioinformatics tools have been developed to interpret gene expression data at the gene set level, and these gene set based analyses improve the biologists' capability to discover functional relevance of their experiment design. While elucidating gene set individually, inter gene sets association is rarely taken into co…
Identifying significant subsets of the genes, gene shaving is an essential and challenging issue for biomedical research for a huge number of genes and the complex nature of biological networks,. Since positive definite kernel based methods on genomic information can improve the prediction of diseases, in this paper we…
New method expands seed genes to functionally related clusters.
problem Discovering functionally related genes lacking GO terms.
method Semi-supervised learning with positive and unlabeled examples.
result LPU approaches significantly outperform existing methods.
GLasso: Regularized Multi-task Graphical Lasso for Joint Estimation of eQTL Mapping and Gene Networkstat.ML
A new method for joint eQTL mapping and gene network estimation.
problem Discovering SNP-gene relationships and gene-gene relationships in gene expression regulation.
method L1-2 regularized multi-task graphical lasso (L1-2 GLasso).
result Competitive performance on capturing true sparse structures of eQTL mapping and gene network.
New method handles correlated genes for better genomic prediction.
problem Technical issues with highly correlated genes in prediction models.
method Grouping algorithm that treats correlated genes as a group and uses their common patterns.
result Significantly outperforms standard models in prediction and feature selection.
Popular online enrichment analysis tools from the field of molecular systems biology provide users with the ability to submit their experimental results as gene sets for individual analysis. Such queries are kept private, and have never before been considered as a resource for integrative analysis. By harnessing gene s…
We present a Bayesian hierarchical multi-view mixture model termed Symphony that simultaneously learns clusters of cells representing cell types and their underlying gene regulatory networks by integrating data from two views: single-cell gene expression data and paired epigenetic data, which is informative of gene-gen…
We present the extention and application of a new unsupervised statistical learning technique--the Partition Decoupling Method--to gene expression data. Because it has the ability to reveal non-linear and non-convex geometries present in the data, the PDM is an improvement over typical gene expression analysis algorith…
A novel method selects genes for high-dimensional gene expression data with class imbalance.
problem Class imbalance in gene expression datasets.
method Synthetic data balancing, greedy search, weighted robust score.
result The proposed method outperforms existing feature selection procedures.
The problem of multilabel classification when the labels are related through a hierarchical categorization scheme occurs in many application domains such as computational biology. For example, this problem arises naturally when trying to automatically assign gene function using a controlled vocabularies like Gene Ontol…
Identifying latent structure in large data matrices is essential for exploring biological processes. Here, we consider recovering gene co-expression networks from gene expression data, where each network encodes relationships between genes that are locally co-regulated by shared biological mechanisms. To do this, we de…
The method integrates survival constraints into NMF for identifying survival-associated gene clusters.
problem Understanding and interpreting high-dimensional biological data for disease markers.
method Cox proportional hazards regression integrated with NMF via proportional hazards non-negative matrix factorization.
result The method can uncover survival-associated gene clusters in cancer gene expression data.
When searching for gene pathways leading to specific disease outcomes, additional information on gene characteristics is often available that may facilitate to differentiate genes related to the disease from irrelevant background when connections involving both types of genes are observed and their relationships to the…
New methods detect continuous variation in single-cell data.
problem Continuous variation within and between cell types not detected by discrete analyses.
method Three topologically motivated mathematical methods for unsupervised feature selection.
result Detect additional biologically meaningful genes with coherent expression patterns.
Most exact methods for k-nearest neighbour search suffer from the curse of dimensionality; that is, their query times exhibit exponential dependence on either the ambient or the intrinsic dimensionality. Dynamic Continuous Indexing (DCI) offers a promising way of circumventing the curse and successfully reduces the dep…
Biogeography-Based Informative Gene Selection and Cancer Classification Using SVM and Random Forestscs.NE
Microarray cancer gene expression data comprise of very high dimensions. Reducing the dimensions helps in improving the overall analysis and classification performance. We propose two hybrid techniques, Biogeography - based Optimization - Random Forests (BBO - RF) and BBO - SVM (Support Vector Machines) with gene ranki…
New gene selection method improves tumor classification accuracy.
problem Efficiently selecting relevant genes from high-dimensional tumor gene expression data.
method Fuzzy-Rough Set Theory for feature dependency analysis.
result The proposed method outperforms state-of-the-art techniques in tumor classification.
Various approaches to gene selection for cancer classification based on microarray data can be found in the literature and they may be grouped into two categories: univariate methods and multivariate methods. Univariate methods look at each gene in the data in isolation from others. They measure the contribution of a p…
New model generates realistic single-cell gene expression data.
problem Generating realistic single-cell gene expression profiles is challenging.
method scLDM, a latent diffusion model using Diffusion Transformers and linear interpolants.
result Superior performance in generating realistic single-cell gene expression data.
We address the problem of synthetic gene design using Bayesian optimization. The main issue when designing a gene is that the design space is defined in terms of long strings of characters of different lengths, which renders the optimization intractable. We propose a three-step approach to deal with this issue. First, …
Predicting the response of cancer cells to drugs is an important problem in pharmacogenomics. Recent efforts in generation of large scale datasets profiling gene expression and drug sensitivity in cell lines have provided a unique opportunity to study this problem. However, one major challenge is the small number of sa…
InfoSEM: A Deep Generative Model with Informative Priors for Gene Regulatory Network Inferencestat.ML
InfoSEM infers gene regulatory networks without GT labels, improving performance.
problem Inferring GRNs from gene expression data with high accuracy and avoiding biases.
method InfoSEM uses deep generative models with informative priors (textual gene embeddings).
result InfoSEM outperforms existing models by 38.5% across four datasets.
Diffusion Generative Modeling for Spatially Resolved Gene Expression Inference from Histology Imagescs.CV
Stem uses diffusion models to infer gene expression from H&E images.
problem Inference of gene expression from H&E stained images is time-consuming and expensive.
method Conditional diffusion generative model to infer gene expression.
result Stem achieves state-of-the-art performance in spatial gene expression prediction.
In most gene expression data, the number of training samples is very small compared to the large number of genes involved in the experiments. However, among the large amount of genes, only a small fraction is effective for performing a certain task. Furthermore, a small subset of genes is desirable in developing gene e…
Most network-based protein (or gene) function prediction methods are based on the assumption that the labels of two adjacent proteins in the network are likely to be the same. However, assuming the pairwise relationship between proteins or genes is not complete, the information a group of genes that show very similar p…
LAGE is a systematic framework developed in Java. The motivation of LAGE is to provide a scalable and parallel solution to reconstruct Gene Regulatory Networks (GRNs) from continuous gene expression data for very large amount of genes. The basic idea of our framework is motivated by the philosophy of divideand-conquer.…
Gene-Gene association for Imaging Genetics Data using Robust Kernel Canonical Correlation Analysisstat.ML
In genome-wide interaction studies, to detect gene-gene interactions, most methods are divided into two folds: single nucleotide polymorphisms (SNP) based and gene-based methods. Basically, the methods based on the gene are more effective than the methods based on a single SNP. Recent years, while the kernel canonical …
Epistasis (gene-gene interaction) is crucial to predicting genetic disease. Our work tackles the computational challenges faced by previous works in epistasis detection by modeling it as a one-step Markov Decision Process where the state is genome data, the actions are the interacted genes, and the reward is an interac…
Spatial studies of transcriptome provide biologists with gene expression maps of heterogeneous and complex tissues. However, most experimental protocols for spatial transcriptomics suffer from the need to select beforehand a small fraction of genes to be quantified over the entire transcriptome. Standard single-cell RN…
Study identifies cancer genes through graph anomaly analysis of protein interactions.
problem Insufficient modeling of biological information in protein interaction networks for cancer gene identification.
method Proposes HIerarchical-Perspective Graph Neural Network (HIPGNN) to detect weight heterogeneity and spectral flattening in cancer gene nodes.
result HIPGNN detects weight heterogeneity and spectral flattening, leading to improved cancer gene identification.
Develops probabilistic models for gene regulatory network inference.
problem Challenges in reconstructing gene regulatory networks from genome-wide data.
method Two complementary frameworks: PMF-GRN and GLM-Prior.
result Probabilistic inference refines regulatory estimates with quantified uncertainty.