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…
New method combines personal and reference genomes for better machine learning in DNA sequencing.
problem Improving accuracy of genetic variant calls in sequencing data.
method Interlaces personal and reference genomes to generate images for machine learning.
result Significant improvement in germline variant calling and somatic variant calling across tumor/normal data.
Method corrects deep generative model likelihood scores for OOD detection.
problem Challenges in deploying neural networks on out-of-distribution data.
method Likelihood ratio method for deep generative models.
result Proposed method achieves state-of-the-art OOD detection performance.
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 framework for multi-domain translation using autoencoders.
problem Learning probabilistic coupling between different domains.
method Learning multiple uncoupled autoencoders under shared latent distribution.
result New autoencoders can be added sequentially without retraining.
New method identifies rare genetic markers for Alzheimer's disease using MRI and genomics.
problem Identifying rare genetic markers for Alzheimer's disease.
method Combining MRI data with genome sequencing, using CNNs for brain traits, and kernel-based tests for rare variants.
result CNNs provide precise brain traits and novel kernels identify rare genetic markers.
New method finds sparse groups of input variables for neural networks.
problem Finding optimal groups of input variables for neural networks.
method Developed a new loss function and optimization algorithm for multi-layer non-linear neural networks to achieve group sparsity.
result Achieved group sparsity in three real-world datasets, improving model performance and excluding a significant number of variables.
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.
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 …
Context-aware ZSL improves object recognition by considering object context.
problem Previous ZSL approaches ignore object context, limiting their effectiveness.
method Proposes a new approach that models the conditional likelihood of objects appearing in specific contexts.
result Contextual information significantly improves ZSL performance and is robust to class imbalance.
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.
Associating image regions with text queries has been recently explored as a new way to bridge visual and linguistic representations. A few pioneering approaches have been proposed based on recurrent neural language models trained generatively (e.g., generating captions), but achieving somewhat limited localization accu…
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.
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.
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 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…
AI improves healthcare diagnostics and predictions.
problem Data heterogeneity and model limitations in AI for health.
method Review of AI applications in health informatics.
result AI enhances disease diagnosis and prediction.
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.
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…
One of the fundamental tasks in understanding genomics is the problem of predicting Transcription Factor Binding Sites (TFBSs). With more than hundreds of Transcription Factors (TFs) as labels, genomic-sequence based TFBS prediction is a challenging multi-label classification task. There are two major biological mechan…
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.
ImJoy simplifies deep learning for biomedical research.
problem Computational barriers limit deep learning adoption in biomedical research.
method Open-source browser-based platform for deep learning.
result Facilitates widespread reuse of deep learning solutions.
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.
The analysis of cancer genomic data has long suffered "the curse of dimensionality". Sample sizes for most cancer genomic studies are a few hundreds at most while there are tens of thousands of genomic features studied. Various methods have been proposed to leverage prior biological knowledge, such as pathways, to more…
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.
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.
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.
Study uses image analysis to predict MSI status in tumors.
problem Challenges in distinguishing MSI from its counterpart.
method Interpretable pathological image analysis strategies using Haematoxylin and eosin-stained images.
result Strategies achieve decent performance in MSI prediction.
LostGANs generate realistic images from reconfigurable layouts and styles.
problem Learning generative models for realistic images from reconfigurable layouts and styles.
method End-to-end training of GANs with two new components: mask maps and ISLA-Norm.
result State-of-the-art performance on COCO-Stuff and Visual Genome datasets.
A new framework for robust transfer learning that avoids negative transfer in domains with unequal information.
problem Negative transfer in unsupervised domain adaptation, especially when source and target domains have different levels of informativeness.
method Decision-theoretic framework based on Le Cam's theory of statistical experiments, using constructive approximations to replace strict invariance with directional simulability.
result Le Cam Distortion achieves near-perfect frequency estimation and zero source utility loss in various domains, demonstrating superior performance compared to traditional methods.
GPCCA integrates multi-modal data with missing values, improving clustering accuracy.
problem Integrating and analyzing multi-modal data with missing values and partial observations.
method Generalized Probabilistic Canonical Correlation Analysis (GPCCA) for unsupervised multi-modal data integration and dimensionality reduction.
result GPCCA outperforms existing methods in capturing essential patterns across modalities and provides robust low-dimensional embeddings.
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…
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.
Second generation sequencing technologies are being increasingly used for genetic association studies, where the main research interest is to identify sets of genetic variants that contribute to various phenotype. The phenotype can be univariate disease status, multivariate responses and even high-dimensional outcomes.…
Machine understanding of complex images is a key goal of artificial intelligence. One challenge underlying this task is that visual scenes contain multiple inter-related objects, and that global context plays an important role in interpreting the scene. A natural modeling framework for capturing such effects is structu…
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.
We consider the problem of performing matrix completion with side information on row-by-row and column-by-column similarities. We build upon recent proposals for matrix estimation with smoothness constraints with respect to row and column graphs. We present a novel iterative procedure for directly minimizing an informa…
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…
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…
New method clusters disease subtypes from model explanations.
problem Discovering disease subtypes in noisy, high-dimensional data.
method Train classifier, extract explanations, cluster in explanation space.
result Cluster analysis on model explanations outperforms classical methods.
"Mixed Data" comprising a large number of heterogeneous variables (e.g. count, binary, continuous, skewed continuous, among other data types) are prevalent in varied areas such as genomics and proteomics, imaging genetics, national security, social networking, and Internet advertising. There have been limited efforts a…
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.
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.
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.