Non-invasive prediction of isocitrate dehydrogenase (IDH) genotype plays an important role in tumor glioma diagnosis and prognosis. Recently, research has shown that radiology images can be a potential tool for genotype prediction, and fusion of multi-modality data by deep learning methods can further provide complementary information to enhance prediction accuracy. However, it still does not have an effective deep learning architecture to predict IDH genotype with three-dimensional (3D) multimodal medical images. In this paper, we proposed a novel multimodal 3D DenseNet (M3D-DenseNet) model to predict IDH genotypes with multimodal magnetic resonance imaging (MRI) data. To evaluate its performance, we conducted experiments on the BRATS-2017 and The Cancer Genome Atlas breast invasive carcinoma (TCGA-BRCA) dataset to get image data as input and gene mutation information as the target, respectively. We achieved 84.6% accuracy (area under the curve (AUC) = 85.7%) on the validation dataset. To evaluate its generalizability, we applied transfer learning techniques to predict World Health Organization (WHO) grade status, which also achieved a high accuracy of 91.4% (AUC = 94.8%) on validation dataset. With the properties of automatic feature extraction, and effective and high generalizability, M3D-DenseNet can serve as a useful method for other multimodal radiogenomics problems and has the potential to be applied in clinical decision making.

Long non-coding RNA (LncRNA) and microRNA (miRNA) are both non-coding RNAs that play significant regulatory roles in many life processes. There is cumulating evidence showing that the interaction patterns between lncRNAs and miRNAs are highly related to cancer development, gene regulation, cellular metabolic process, etc. Contemporaneously, with the rapid development of RNA sequence technology, numerous novel lncRNAs and miRNAs have been found, which might help to explore novel regulated patterns. However, the increasing unknown interactions between lncRNAs and miRNAs may hinder finding the novel regulated pattern, and wet experiments to identify the potential interaction are costly and time-consuming. Furthermore, few computational tools are available for predicting lncRNA–miRNA interaction based on a sequential level. In this paper, we propose a hybrid sequence feature-based model, LncMirNet (lncRNA–miRNA interactions network), to predict lncRNA–miRNA interactions via deep convolutional neural networks (CNN). First, four categories of sequence-based features are introduced to encode lncRNA/miRNA sequences including k-mer (k = 1, 2, 3, 4), composition transition distribution (CTD), doc2vec, and graph embedding features. Then, to fit the CNN learning pattern, a histogram-dd method is incorporated to fuse multiple types of features into a matrix. Finally, LncMirNet attained excellent performance in comparison with six other state-of-the-art methods on a real dataset collected from lncRNASNP2 via five-fold cross validation. LncMirNet increased accuracy and area under curve (AUC) by more than 3%, respectively, over that of the other tools, and improved the Matthews correlation coefficient (MCC) by more than 6%. These results show that LncMirNet can obtain high confidence in predicting potential interactions between lncRNAs and miRNAs.

It is very significant to explore the intrinsic differences in breast cancer subtypes. These intrinsic differences are closely related to clinical diagnosis and designation of treatment plans. With the accumulation of biological and medicine datasets, there are many different omics data that can be viewed in different aspects. Combining these multiple omics data can improve the accuracy of prediction. Meanwhile; there are also many different databases available for us to download different types of omics data. In this article, we use estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) to define breast cancer subtypes and classify any two breast cancer subtypes using SMO-MKL algorithm. We collected mRNA data, methylation data and copy number variation (CNV) data from TCGA to classify breast cancer subtypes. Multiple Kernel Learning (MKL) is employed to use these omics data distinctly. The result of using three omics data with multiple kernels is better than that of using single omics data with multiple kernels. Furthermore; these significant genes and pathways discovered in the feature selection process are also analyzed. In experiments; the proposed method outperforms other state-of-the-art methods and has abundant biological interpretations.

The identification of transcription factor binding sites and cis-regulatory motifs is a frontier whereupon the rules governing protein–DNA binding are being revealed. Here, we developed a new method (DEep Sequence and Shape mOtif or DESSO) for cis-regulatory motif prediction using deep neural networks and the binomial distribution model. DESSO outperformed existing tools, including DeepBind, in predicting motifs in 690 human ENCODE ChIP-sequencing datasets. Furthermore, the deep-learning framework of DESSO expanded motif discovery beyond the state-of-the-art by allowing the identification of known and new protein–protein–DNA tethering interactions in human transcription factors (TFs). Specifically, 61 putative tethering interactions were identified among the 100 TFs expressed in the K562 cell line. In this work, the power of DESSO was further expanded by integrating the detection of DNA shape features. We found that shape information has strong predictive power for TF–DNA binding and provides new putative shape motif information for human TFs. Thus, DESSO improves in the identification and structural analysis of TF binding sites, by integrating the complexities of DNA binding into a deep-learning framework.

Several factors, including advances in computational algorithms, the availability of high-performance computing hardware, and the assembly of large community-based databases, have led to the extensive application of Artificial Intelligence (AI) in the biomedical domain for nearly 20 years. AI algorithms have attained expert-level performance in cancer research. However, only a few AI-based applications have been approved for use in the real world. Whether AI will eventually be capable of replacing medical experts has been a hot topic. In this article, we first summarize the cancer research status using AI in the past two decades, including the consensus on the procedure of AI based on an ideal paradigm and current efforts of the expertise and domain knowledge. Next, the available data of AI process in the biomedical domain are surveyed. Then, we review the methods and applications of AI in cancer clinical research categorized by the data types including radiographic imaging, cancer genome, medical records, drug information and biomedical literatures. At last, we discuss challenges in moving AI from theoretical research to real-world cancer research applications and the perspectives toward the future realization of AI participating cancer treatment.

With the rapid accumulation of gene expression data from various technologies, e.g., microarray, RNA-sequencing (RNA-seq), and single-cell RNA-seq, it is necessary to carry out dimensional reduction and feature (signature genes) selection in support of making sense out of such high dimensional data. These computational methods significantly facilitate further data analysis and interpretation, such as gene function enrichment analysis, cancer biomarker detection, and drug targeting identification in precision medicine. Although numerous methods have been developed for feature selection in bioinformatics, it is still a challenge to choose the appropriate methods for a specific problem and seek for the most reasonable ranking features. Meanwhile, the paired gene expression data under matched case-control design (MCCD) is becoming increasingly popular, which has often been used in multi-omics integration studies and may increase feature selection efficiency by offsetting similar distributions of confounding features. The appropriate feature selection methods specifically designed for the paired data, which is named as matched-pairs feature selection (MPFS), however, have not been maturely developed in parallel. In this review, we compare the performance of 10 feature-selection methods (eight MPFS methods and two traditional unpaired methods) on two real datasets by applied three classification methods, and analyze the algorithm complexity of these methods through the running of their programs. This review aims to induce and comprehensively present the MPFS in such a way that readers can easily understand its characteristics and get a clue in selecting the appropriate methods for their analyses.