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.
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…
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.
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…
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.
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.
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 …
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.
Matrix completion has attracted significant recent attention in many fields including statistics, applied mathematics and electrical engineering. Current literature on matrix completion focuses primarily on independent sampling models under which the individual observed entries are sampled independently. Motivated by a…
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.
As the amount and complexity of genetic information increases it is necessary that we explore some efficient ways of handling these data. This study takes the "divide and conquer" approach for analyzing high dimensional genomic data. Our aims include reducing the dimensionality of the problem that has to be dealt one a…
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.
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 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.
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…
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.
A simple algorithm for GWAS estimating SNP effects.
problem Estimating main and epistatic effects of SNPs.
method Pairs of individuals considered instead of SNPs or pairs of SNPs, based on intuitive allele changes leading to phenotype differences.
result Weak dependence on the number of SNPs, strong on the number of individuals.
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.
Guided adaptive shrinkage uses co-data to improve feature selection in genomic studies.
problem Feature selection challenges in high-dimensional genomics data, especially in clinical settings.
method Guided adaptive shrinkage methods that use co-data to adapt shrinkage parameters.
result Improves feature selection in genomic studies, demonstrated through comparisons and examples.
Study proposes a more accurate method for classifying transposable elements.
problem Classifying transposable elements for understanding their genetic and evolutionary effects.
method Utilized Support Vector Machines (SVM) for hierarchical classification of transposable elements.
result Proposed a robust approach for hierarchical classification of transposable elements with higher accuracy.
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.
Secure linear regression at speed of plaintext methods.
problem Secure multiparty linear regression and feature selection.
method Distributed algorithms combining geometric ideas.
result Efficient and secure genome-wide association studies.
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…
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.
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…
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.
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.
Study assesses linear classifiers for virus genotyping and subtyping.
problem Challenges in classifying viral sequences, especially in alignment-free methods.
method Comprehensive evaluation of linear classifiers on HCV genomes, varying parameters and sequence lengths.
result Several classifiers perform well under specific conditions, providing robust assessment.
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…
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.
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.
Develops a faster soybean genome clustering method combining spectral and vector quantization.
problem Clustering soybean whole genome sequences efficiently.
method Combines Spectral Clustering and Vector Quantization for computational efficiency.
result Significantly outperforms existing methods in cluster quality and time complexity.
Recent advances in high-throughput cDNA sequencing (RNA-Seq) technology have revolutionized transcriptome studies. A major motivation for RNA-Seq is to map the structure of expressed transcripts at nucleotide resolution. With accurate computational tools for transcript reconstruction, this technology may also become us…
TF-MoDISco finds transcription factor motifs from genomic data.
problem Identifying transcription factor motifs from genomic sequence data.
method Algorithm for motif discovery from basepair-level importance scores.
result Improved version v0.5.6.5 of TF-MoDISco.
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.
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.
Fast and cheaper next generation sequencing technologies will generate unprecedentedly massive and highly-dimensional genomic and epigenomic variation data. In the near future, a routine part of medical record will include the sequenced genomes. A fundamental question is how to efficiently extract genomic and epigenomi…
IEN speeds up T-Rex+GVS for fast, efficient GWAS.
problem Efficiently selecting groups of genetic variants in large-scale genomics studies.
method Informed Elastic Net (IEN) as a faster base selector for T-Rex+GVS.
result IEN reduces computation time while maintaining high TPR and FDR control.
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.
Paper proposes using LSTM for LSH-based sequence alignment.
problem Sequence alignment using deep learning models.
method Deep bidirectional LSTM for feature learning and LSH-based sequence alignment.
result Higher accuracy achieved with LSTM-based model.
Proposes using MLP for predicting optimal penalty in changepoint detection.
problem Predicting optimal penalty for changepoints in sequences.
method Uses a multilayer perceptron (MLP) with ReLU activation function to predict penalty.
result Improves accuracy and F1 score compared to existing models.
Cluster Quilting clusters fragmented data sets for neuroscience and genomics.
problem Clustering fragmented data sets in neuroscience and genomics.
method Cluster Quilting method using patch ordering, patchwise SVD, sequential linear mapping, and k-means.
result Cluster Quilting discovers more accurate clusters than other methods.
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…
Measures DNA quality degradation effects.
problem Identifying degraded DNA sequence data.
method Novel quality quantification based on intentional degradation effects.
result Quantified measures of degradation can be used for multiple purposes.
iRF detects stable high-order interactions in genomics data.
problem Understanding high-order interactions in genomics data.
method Iterative Random Forest algorithm (iRF) for stable high-order interaction detection.
result iRF identifies stable high-order interactions with computational cost similar to Random Forest.
A fast clustering algorithm for high-dimensional data.
problem Clustering high-dimensional data efficiently.
method Exploits the structure of ${f XX}^T$ to cluster NimesN matrix. result More accurate than other algorithms in 32 genomic datasets.