Related papers: Genome Variant Calling with a Deep Averaging Netwo…
The variation in DNA copy number carries information on the modalities of genome evolution and misregulation of DNA replication in cancer cells; its study can be helpful to localize tumor suppressor genes, distinguish different populations…
The ability to design complex neural network architectures which enable effective training by stochastic gradient descent has been the key for many achievements in the field of deep learning. However, developing such architectures remains a…
Deep learning Convolutional Neural Network (CNN) models are powerful classification models but require a large amount of training data. In niche domains such as bird acoustics, it is expensive and difficult to obtain a large number of…
Deep generative models provide powerful tools for distributions over complicated manifolds, such as those of natural images. But many of these methods, including generative adversarial networks (GANs), can be difficult to train, in part…
The integration of knowledge graphs and graph machine learning (GML) in genomic data analysis offers several opportunities for understanding complex genetic relationships, especially at the RNA level. We present a comprehensive approach for…
Gene finding is the task of identifying the locations of coding sequences within the vast amount of genetic code contained in the genome. With an ever increasing quantity of raw genome sequences, gene finding is an important avenue towards…
The deep Convolutional Neural Network (CNN) is the state-of-the-art solution for large-scale visual recognition. Following basic principles such as increasing the depth and constructing highway connections, researchers have manually…
In medical genetics, each genetic variant is evaluated as an independent entity regarding its clinical importance. However, in most complex diseases, variant combinations in specific gene networks, rather than the presence of a particular…
Multi-layer feedforward networks have been used to approximate a wide range of nonlinear functions. An important and fundamental problem is to understand the learnability of a network model through its statistical risk, or the expected…
Gene selection plays a pivotal role in oncology research for improving outcome prediction accuracy and facilitating cost-effective genomic profiling for cancer patients. This paper introduces two gene selection strategies for deep…
Inspired by two basic mechanisms in animal visual systems, we introduce a feature transform technique that imposes invariance properties in the training of deep neural networks. The resulting algorithm requires less parameter tuning, trains…
Current deep neural networks are highly overparameterized (up to billions of connection weights) and nonlinear. Yet they can fit data almost perfectly through variants of gradient descent algorithms and achieve unexpected levels of…
It is widely recognized that deep neural networks are sensitive to bias in the data. This means that during training these models are likely to learn spurious correlations between data and labels, resulting in limited generalization…
The computational prediction of a protein structure from its sequence generally relies on a method to assess the quality of protein models. Most assessment methods rank candidate models using heavily engineered structural features, defined…
A primary goal of computational phenotype research is to conduct medical diagnosis. In hospital, physicians rely on massive clinical data to make diagnosis decisions, among which laboratory tests are one of the most important resources.…
Deep kernel learning combines the non-parametric flexibility of kernel methods with the inductive biases of deep learning architectures. We propose a novel deep kernel learning model and stochastic variational inference procedure which…
The discovery of genetic risk factors has transformed human genetics, yet the pace of new gene identification has slowed despite the exponential expansion of sequencing and biobank resources. Current approaches are optimized for the…
Genomic foundation models have the potential to decode DNA syntax, yet face a fundamental tradeoff in their input representation. Standard fixed-vocabulary tokenizers fragment biologically meaningful motifs such as codons and regulatory…
Motivation: With the development of third-generation sequencing technologies, people are able to obtain DNA sequences with lengths from 10s to 100s of kb. These long reads allow protein domain annotation without assembly, thus can produce…
We introduce a new representation learning approach for domain adaptation, in which data at training and test time come from similar but different distributions. Our approach is directly inspired by the theory on domain adaptation…