ARTICLE | doi:10.20944/preprints202301.0343.v1
Subject: Biology And Life Sciences, Biochemistry And Molecular Biology Keywords: Prostate cancer; Somatic point mutations; Copy number variation; Regulatory variant, Hi-C; Per-sonalized medicine; Biomedical machine learning
Online: 19 January 2023 (02:10:02 CET)
Prostate cancer (PC) is the most frequently diagnosed non-skin cancer in the world. Previous studies showed that genomic alterations represent the most common mechanism for molecular alterations that cause the development and progression of PC. Great efforts have been done to identify common protein-coding genetic variations; however, the impact of non-coding variations including regulatory genetic variants is not still well understood. To gain an understanding of the functional impact of genetic variants, particularly, regulatory variants in PC, we developed an integrative pipeline (AGV) that used whole genome/exome sequences, GWAS SNPs, chromosome conformation capture data, and ChIP-Seq signals to investigate the potential impact of genomic variants on the underlying target genes in PC. We identified 646 putative regulatory variants, of which 30 of them significantly altered the expression of at least one protein-coding gene. Our analysis of chromatin interactions data (Hi-C) revealed that the 30 putative regulatory variants may affect 131 coding and non-coding genes. Interestingly, our study showed the 131 protein-coding genes are involved in disease-related pathways including Reactome and MSigDB in which for most of them targeted treatment options are currently available. Together, our results provide a comprehensive map of genomic variants in PC and revealed their potential contribution to prostate cancer progression and development.
ARTICLE | doi:10.20944/preprints202201.0258.v1
Subject: Computer Science And Mathematics, Artificial Intelligence And Machine Learning Keywords: Skin cancer; Deep learning; Hybrid feature extractor; Local binary pattern; Feature extraction
Online: 18 January 2022 (12:43:50 CET)
Skin cancer is an exquisite disease globally nowadays. Because of the poor contrast and apparent resemblance between skin and lesions, automatic identification of skin cancer is complicated. The rate of human death can be massively reduced if melanoma skin cancer can be detected quickly using dermoscopy images. In this research, an anisotropic diffusion filtering method is used on dermoscopy images to remove multiplicative speckle noise and the fast-bounding box (FBB) method is applied to segment the skin cancer region. Furthermore, the paper consists of two feature extractor parts. One of the two features extractor parts is the hybrid feature extractor (HFE) part and another is the convolutional neural network VGG19 based CNN feature extractor part. The HFE portion combines three feature extraction approaches into a single fused feature vector: Histogram-Oriented Gradient (HOG), Local Binary Pattern (LBP), and Speed Up Robust Feature (SURF). The CNN method also is used to extract additional features from test and training datasets. This two-feature vector is fused to design the classification model. This classifier performs the classification of dermoscopy images whether it is melanoma or non-melanoma skin cancer. The proposed methodology is performed on two ordinary datasets and achieved the accuracy 99.85%, sensitivity 91.65%, and specificity 95.70%, which makes it more successful than previous machine learning algorithms.
REVIEW | doi:10.20944/preprints202202.0083.v2
Subject: Computer Science And Mathematics, Artificial Intelligence And Machine Learning Keywords: Machine Learning; COVID-19; Internet of Things (IoT); Deep Learning; Big Data
Online: 19 April 2022 (08:21:00 CEST)
Early diagnosis, prioritization, screening, clustering and tracking of COVID-19 patients, and production of drugs and vaccines are some of the applications that have made it necessary to use a new style of technology to involve, to manage and deal with this epidemic. Strategies backed by artificial intelligence (AI) and the Internet of Things (IoT) have been undeniable to understand how the virus works and try to prevent it from spreading. Accordingly, the main aim of this survey article is to highlight the methods of ML, IoT and the integration of IoT and ML-based techniques in the applications related to COVID-19 from the diagnosis of the disease to the prediction of its outbreak. According to the main findings, IoT provided a prompt and efficient approach of following the disease spread. Most of the studies developed by ML-based techniques for handling COVID-19 based dataset provided performance criteria. The most popular performance criteria, is related to accuracy factor. It can be employed for comparing the ML-based methods with different datasets. According to the results, CNN with SVM classifier, Genetic CNN and pre-trained CNN followed by ResNet, provided highest accuracy values. On the other hand, the lowest accuracy was related to single CNN followed by XGboost and KNN methods.