Paper uses genome Markov structure for outlier detection and read classification.
problem Identifying outliers and classifying reads in genome databases.
method Applying second-order Markov models to triplet base distributions.
result Improved accuracy in outlier identification and read classification.
Bayesian analysis uncovers flux couplings in metabolic networks.
problem Uncertainty and unrealistic assumptions in traditional flux analysis methods.
method Introduces Bayesian metabolic flux analysis to model reactions probabilistically and infer flux distributions.
result Reveals informative flux couplings and more unobserved fluxes in metabolic networks.
Graphs represent gene segment organization, revealing complex interrelationships in a scrambled genome.
problem Understanding gene segment organization and interrelationships in a scrambled genome.
method Directed graphs representing gene segments and their relationships, with graph properties mapped to higher-dimensional space for analysis.
result Emerging star-like structures indicate complex interrelationships, including segments from multiple genes interleaving or overlapping.
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.
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.
The paper predicts diseases using both clinical and genomics data.
problem Clinical predictions using genomics data are not common.
method Integrated clinical and genomics datasets, machine learning, Principal Component Analysis for feature selection.
result 73% accuracy in predicting 75 disease classes.
The combination of multiple classifiers using ensemble methods is increasingly important for making progress in a variety of difficult prediction problems. We present a comparative analysis of several ensemble methods through two case studies in genomics, namely the prediction of genetic interactions and protein functi…
Dr.S recommends cancer drugs based on genomic data.
problem Personalizing cancer treatments using genomic information.
method Machine learning to identify optimal drug-gene associations.
result Developed a Drug Recommendation System (Dr.S) for cancer cell lines.
PKB method uses pathway information for cancer sample classification.
problem Cancer genomic data's high dimensionality and limited sample sizes.
method Pathway-based Kernel Boosting (PKB) method integrating gene pathway information for sample classification.
result PKB method outperforms other methods and identifies relevant pathways.
Develops 2-categorical methods for multi-parameter persistence.
problem Fundamental limitations of traditional persistence modules.
method 2-categorical structures to capture hierarchical interactions.
result New invariants effectively characterize multidimensional topological features.
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.
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…
Generates new human genomic sequences for LAI training.
problem Lack of accessible reference data sets for LAI.
method Class-conditional VAE-GAN to generate realistic sequences.
result Generated sequences improve LAI method performance.
Deep learning detects genetic interactions in type 2 diabetes.
problem Detecting genetic interactions in complex diseases like type 2 diabetes.
method Stacked Autoencoder for non-linear epistatic interactions.
result Deep learning can uncover missing heritability in complex diseases.
Research in several fields now requires the analysis of data sets in which multiple high-dimensional types of data are available for a common set of objects. In particular, The Cancer Genome Atlas (TCGA) includes data from several diverse genomic technologies on the same cancerous tumor samples. In this paper we introd…
Spectral simplicial theory improves feature selection for complex data.
problem Complex data sets and high-dimensional feature spaces require efficient feature selection methods.
method Extends spectral techniques to abstract simplicial complexes, incorporating topological data analysis.
result Spectral simplicial methods provide a unified approach for feature selection in multi-modal genomic data.
Private cancer prediction model trained on federated genomic data.
problem Train a private cancer prediction model on federated genomic data.
method Differentially private federated learning (FL) for genomic cancer prediction.
result Ranked 3rd in a competition for private cancer prediction.
We develop a neural network model to classify liver cancer patients into high-risk and low-risk groups using genomic data. Our approach provides a novel technique to classify big data sets using neural network models. We preprocess the data before training the neural network models. We first expand the data using wavel…
Reducing the number of false discoveries is presently one of the most pressing issues in the life sciences. It is of especially great importance for many applications in neuroimaging and genomics, where datasets are typically high-dimensional, which means that the number of explanatory variables exceeds the sample size…
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.
SEISM tests neural network features for regulatory genomics.
problem Testing neural network features for regulatory genomics.
method Selective inference procedure for sequence motifs.
result Sampling under specific parameters characterizes composite null hypothesis.
Method computes embeddings for RNA-seq data without genome alignment.
problem No need for genome alignment for RNA-seq data analysis.
method RNN transforms kmers into 2D latent space for transcriptomic analysis.
result Captures DNA sequence similarity and abundance in latent space.
Tensor analysis tackles complex multidimensional data across fields.
problem Efficiently extracting information from high-dimensional data.
method Interdisciplinary approach combining statistics, optimization, and numerical linear algebra.
result Significant progress in tensor analysis over the last decade.
SNeCT integrates multi-platform genomic data using Tucker decomposition with network constraints.
problem Integrative analysis of large-scale, high-dimensional, sparse genomic data with prior knowledge incorporation.
method Parallel stochastic gradient descent on a network-constrained optimization function.
result Decomposed factor matrices stratify cancers, find similar patients, and personalize interpretation.
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.
A Bayesian Boolean Matrix Factorization for cancer genomics
problem Identifying coordinated feature changes in cancer
method Bayesian Boolean Matrix Factorization
result Captures widespread, near-simultaneous chromosome-number changes
The paper solves a genome assembly problem by recovering hidden Hamiltonian cycles from noisy measurements.
problem Inferring an unknown Hamiltonian cycle in a genome assembly problem from noisy edge measurements.
method Introduced a linear programming relaxation (F2F LP) to recover the hidden Hamiltonian cycle with high probability.
result A simple linear programming relaxation recovers the hidden Hamiltonian cycle with high probability as no∞. Each human genome is a 3 billion base pair set of encoding instructions. Decoding the genome using deep learning fundamentally differs from most tasks, as we do not know the full structure of the data and therefore cannot design architectures to suit it. As such, architectures that fit the structure of genomics should …
A genome-wide association study (GWAS) correlates marker variation with trait variation in a sample of individuals. Each study subject is genotyped at a multitude of SNPs (single nucleotide polymorphisms) spanning the genome. Here we assume that subjects are unrelated and collected at random and that trait values are n…
Quantile normalisation is a popular normalisation method for data subject to unwanted variations such as images, speech, or genomic data. It applies a monotonic transformation to the feature values of each sample to ensure that after normalisation, they follow the same target distribution for each sample. Choosing a "g…
New algorithm clusters sparse data effectively.
problem Challenges in clustering sparse data.
method Deterministic Information Bottleneck framework for joint feature weighting and clustering.
result Demonstrated effectiveness on real-world genomics data.
Common complex diseases are likely influenced by the interplay of hundreds, or even thousands, of genetic variants. Converging evidence shows that genetic variants with low marginal effects (LME) play an important role in disease development. Despite their potential significance, discovering LME genetic variants and as…
SVM and N-best algorithm classify microbial marker clades from genome sequences.
problem Classifying microbial clades from genome sequences, especially new species.
method Support vector machine (SVM) with N-best algorithm, time series feature extraction, random fragment generation, k-mer size selection.
result Recognition accuracy rates above 28% in top-1 candidate, above 91% in top-10 candidate.
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.
Genomic predictors explain 40% of human height variance.
problem Missing heritability in human height prediction.
method High-dimensional statistics and machine learning.
result Predicted heights correlate 0.65 with actual height.
Canonical Correlation Analysis (CCA) is a classical tool for finding correlations among the components of two random vectors. In recent years, CCA has been widely applied to the analysis of genomic data, where it is common for researchers to perform multiple assays on a single set of patient samples. Recent work has pr…
Genomic models learn DNA sequences to predict functions.
problem Understanding complex genetic interactions.
method Training LLMs on DNA sequences to predict functions.
result gLMs can predict functions of DNA elements.
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 …
Prototype Matching Network (PMN) improves genomic TFBS prediction.
problem Predicting Transcription Factor Binding Sites (TFBSs) with hundreds of TFs as labels.
method Prototype Matching Network (PMN) that learns motif-like features and TF-TF interactions.
result PMN significantly outperforms baselines on a large TFBS dataset.
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.
GSAE autoencoder models gene sets for better cancer subtype and prognosis analysis.
problem Inter-gene set associations not considered in gene set-based analyses.
method Gene superset autoencoder model incorporating prior gene sets.
result Gene supersets retain biological features and are reproducible for cancer subtype and prognosis.
The increased affordability of whole genome sequencing has motivated its use for phenotypic studies. We address the problem of learning interpretable models for discrete phenotypes from whole genomes. We propose a general approach that relies on the Set Covering Machine and a k-mer representation of the genomes. We sho…
Dilated convolutions model long-distance genomic dependencies effectively.
problem Detecting regulatory elements from raw DNA with long-distance dependencies.
method Developed and used a novel dataset for dilated convolutional neural networks.
result Dilated convolutions are effective at modeling regulatory elements in the human genome.
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…
AdvPCA uses robust optimization to achieve sparse PCA without tuning.
problem Sparse PCA for high-dimensional data with implicit sparsity.
method Adversarial PCA (AdvPCA) using robust optimization.
result AdvPCA achieves effective sparse PCA with a closed-form solution.
A review of contrastive dimension reduction methods for treatment vs control studies.
problem Traditional dimension reduction techniques fail to isolate treatment-specific signals.
method Systematic overview and taxonomy of CDR methods.
result Unified framework for CDR methods and applications.
Nucleosome positioning is an important process required for proper genome packing and its accessibility to execute the genetic program in a cell-specific, timely manner. In the recent years hundreds of papers have been devoted to the bioinformatics, physics and biology of nucleosome positioning. The purpose of this rev…
Advances of modern sensing and sequencing technologies generate a deluge of high dimensional space-temporal physiological and next-generation sequencing (NGS) data. Physiological traits are observed either as continuous random functions, or on a dense grid and referred to as function-valued traits. Both physiological a…