Rapid advances in hardware-based technologies during the past decades have opened up new possibilities for life scientists to gather multimodal data in various application domains, such as omics , bioimaging , medical imaging , and (brain/body)–machine interfaces . These have generated novel opportunities for development of dedicated data-intensive machine learning techniques. In particular, recent research in deep learning (DL), reinforcement learning (RL), and their combination (deep RL) promise to revolutionize the future of artificial intelligence. The growth in computational power accompanied by faster and increased data storage, and declining computing costs have already allowed scientists in various fields to apply these techniques on data sets that were previously intractable owing to their size and complexity. This paper provides a comprehensive survey on the application of DL, RL, and deep RL techniques in mining biological data. In addition, we compare the performances of DL techniques when applied to different data sets across various application domains. Finally, we outline open issues in this challenging research area and discuss future development perspectives.

/pdf/applications-of-deep-learning-and-reinforcement-learning-to-3l72kwyi7n.pdf

Applications of Deep Learning and Reinforcement Learning to Biological Data

Deep learning methods are a class of machine learning techniques capable of identifying highly complex patterns in large datasets. Here, we provide a perspective and primer on deep learning applications for genome analysis. We discuss successful applications in the fields of regulatory genomics, variant calling and pathogenicity scores. We include general guidance for how to effectively use deep learning methods as well as a practical guide to tools and resources. This primer is accompanied by an interactive online tutorial.

A primer on deep learning in genomics.

Deep learning can achieve higher accuracy than traditional machine learning algorithms in a variety of machine learning tasks. Recently, privacy-preserving deep learning has drawn tremendous attention from information security community, in which neither training data nor the training model is expected to be exposed. Federated learning is a popular learning mechanism, where multiple parties upload local gradients to a server and the server updates model parameters with the collected gradients. However, there are many security problems neglected in federated learning, for example, the participants may behave incorrectly in gradient collecting or parameter updating, and the server may be malicious as well. In this article, we present a distributed, secure, and fair deep learning framework named DeepChain to solve these problems. DeepChain provides a value-driven incentive mechanism based on Blockchain to force the participants to behave correctly. Meanwhile, DeepChain guarantees data privacy for each participant and provides auditability for the whole training process. We implement a prototype of DeepChain and conduct experiments on a real dataset for different settings, and the results show that our DeepChain is promising.

DeepChain: Auditable and Privacy-Preserving Deep Learning with Blockchain-Based Incentive

Deep learning is a subdiscipline of artificial intelligence that uses a machine learning technique called artificial neural networks to extract patterns and make predictions from large data sets. The increasing adoption of deep learning across healthcare domains together with the availability of highly characterised cancer datasets has accelerated research into the utility of deep learning in the analysis of the complex biology of cancer. While early results are promising, this is a rapidly evolving field with new knowledge emerging in both cancer biology and deep learning. In this review, we provide an overview of emerging deep learning techniques and how they are being applied to oncology. We focus on the deep learning applications for omics data types, including genomic, methylation and transcriptomic data, as well as histopathology-based genomic inference, and provide perspectives on how the different data types can be integrated to develop decision support tools. We provide specific examples of how deep learning may be applied in cancer diagnosis, prognosis and treatment management. We also assess the current limitations and challenges for the application of deep learning in precision oncology, including the lack of phenotypically rich data and the need for more explainable deep learning models. Finally, we conclude with a discussion of how current obstacles can be overcome to enable future clinical utilisation of deep learning.

/pdf/deep-learning-in-cancer-diagnosis-prognosis-and-treatment-2t2ebqw2g4.pdf

Deep learning in cancer diagnosis, prognosis and treatment selection.

In this review the application of deep learning for medical diagnosis is addressed. A thorough analysis of various scientific articles in the domain of deep neural networks application in the medical field has been conducted. More than 300 research articles were obtained, and after several selection steps, 46 articles were presented in more detail. The results indicate that convolutional neural networks (CNN) are the most widely represented when it comes to deep learning and medical image analysis. Furthermore, based on the findings of this article, it can be noted that the application of deep learning technology is widespread, but the majority of applications are focused on bioinformatics, medical diagnosis and other similar fields.

Deep Learning and Medical Diagnosis: A Review of Literature

Cancer detection from gene expression data continues to pose a challenge due to the high dimensionality and complexity of these data. After decades of research there is still uncertainty in the clinical diagnosis of cancer and the identification of tumor-specific markers. Here we present a deep learning approach to cancer detection, and to the identification of genes critical for the diagnosis of breast cancer. First, we used Stacked Denoising Autoencoder (SDAE) to deeply extract functional features from high dimensional gene expression profiles. Next, we evaluated the performance of the extracted representation through supervised classification models to verify the usefulness of the new features in cancer detection. Lastly, we identified a set of highly interactive genes by analyzing the SDAE connectivity matrices. Our results and analysis illustrate that these highly interactive genes could be useful cancer biomarkers for the detection of breast cancer that deserve further studies.

http://psb.stanford.edu/psb-online/proceedings/psb17/danaee.pdf

A deep learning approach for cancer detection and relevant gene identification

While RNA secondary structure prediction from sequence data has made remarkable progress, there is a need for improved strategies for annotating the features of RNA secondary structures. Here, we present bpRNA, a novel annotation tool capable of parsing RNA structures, including complex pseudoknot-containing RNAs, to yield an objective, precise, compact, unambiguous, easily-interpretable description of all loops, stems, and pseudoknots, along with the positions, sequence, and flanking base pairs of each such structural feature. We also introduce several new informative representations of RNA structure types to improve structure visualization and interpretation. We have further used bpRNA to generate a web-accessible meta-database, 'bpRNA-1m', of over 100 000 single-molecule, known secondary structures; this is both more fully and accurately annotated and over 20-times larger than existing databases. We use a subset of the database with highly similar (≥90% identical) sequences filtered out to report on statistical trends in sequence, flanking base pairs, and length. Both the bpRNA method and the bpRNA-1m database will be valuable resources both for specific analysis of individual RNA molecules and large-scale analyses such as are useful for updating RNA energy parameters for computational thermodynamic predictions, improving machine learning models for structure prediction, and for benchmarking structure-prediction algorithms.

/pdf/bprna-large-scale-automated-annotation-and-analysis-of-rna-3lm7d2tc8c.pdf

bpRNA: large-scale automated annotation and analysis of RNA secondary structure.

The current deluge of newly identified RNA transcripts presents a singular opportunity for improved assessment of coding potential, a cornerstone of genome annotation, and for machine-driven discovery of biological knowledge. While traditional, feature-based methods for RNA classification are limited by current scientific knowledge, deep learning methods can independently discover complex biological rules in the data de novo. We trained a gated recurrent neural network (RNN) on human messenger RNA (mRNA) and long noncoding RNA (lncRNA) sequences. Our model, mRNA RNN (mRNN), surpasses state-of-the-art methods at predicting protein-coding potential despite being trained with less data and with no prior concept of what features define mRNAs. To understand what mRNN learned, we probed the network and uncovered several context-sensitive codons highly predictive of coding potential. Our results suggest that gated RNNs can learn complex and long-range patterns in full-length human transcripts, making them ideal for performing a wide range of difficult classification tasks and, most importantly, for harvesting new biological insights from the rising flood of sequencing data.

/pdf/a-deep-recurrent-neural-network-discovers-complex-biological-4zw9wxnkym.pdf

A deep recurrent neural network discovers complex biological rules to decipher RNA protein-coding potential.

The current deluge of newly identified RNA transcripts presents a singular opportunity for improved assessment of coding potential, a cornerstone of genome annotation, and for machine-driven discovery of biological knowledge. While traditional, feature-based methods for RNA classification are limited by current scientific knowledge, deep learning methods can independently discover complex biological rules in the data de novo. We trained a gated recurrent neural network (RNN) on human messenger RNA (mRNA) and long noncoding RNA (lncRNA) sequences. Our model, mRNA RNN (mRNN), surpasses state-of-the-art methods at predicting protein-coding potential. To understand what mRNN learned, we probed the network and uncovered several context-sensitive codons highly predictive of coding potential. Our results suggest that gated RNNs can learn complex and long-range patterns in full-length human transcripts, making them ideal for performing a wide range of difficult classification tasks and, most importantly, for harvesting new biological insights from the rising flood of sequencing data.

https://www.biorxiv.org/content/biorxiv/early/2017/11/13/200758.1.full.pdf

A Deep Recurrent Neural Network Discovers Complex Biological Rules to Decipher RNA Protein-Coding Potential

Interpretable Machine Learning: Applications in Biology and Genomics

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