Identification of Crown of Thorns Starfish (COTS) using Convolutional Neural Network (CNN) and attention model.

Coral reefs play important roles in the marine ecosystem, from providing shelter to aquatic lives to being a source of income to others. However, they are in danger from outbreaks of species like the Crown of Thorns Starfish (COTS) and the widespread coral bleaching from rising sea temperatures. The identification of COTS for detecting outbreaks is a challenging task and is often done through snorkelling and diving activities with limited range, where strong currents result in poor image capture, damage of capturing equipment, and are of high risks. This paper proposes a novel approach for the automatic detection of COTS based Convolutional Neural Network (CNN) with an enhanced attention module. Different pre-trained CNN models, namely, VGG19 and MobileNetV2 have been applied to our dataset with the aim of detecting and classifying COTS using transfer learning. The architecture of the pre-trained models was optimised using ADAM optimisers and an accuracy of 87.1% was achieved for VGG19 and 80.2% for the MobileNetV2. The attention model was developed and added to the CNN to determine which features in the starfish were influencing the classification. The enhanced model attained an accuracy of 92.6% while explaining the causal features in COTS. The mean average precision of the enhanced VGG-19 with the addition of the attention model was 95% showing an increase of 2% compared to only the enhanced VGG-19 model.

Discovering novel driver mutations from pan-cancer analysis of mutational and gene expression profiles.

As the genomic profile across cancers varies from person to person, patient prognosis and treatment may differ based on the mutational signature of each tumour. Thus, it is critical to understand genomic drivers of cancer and identify potential mutational commonalities across tumors originating at diverse anatomical sites. Large-scale cancer genomics initiatives, such as TCGA, ICGC and GENIE have enabled the analysis of thousands of tumour genomes. Our goal was to identify new cancer-causing mutations that may be common across tumour sites using mutational and gene expression profiles. Genomic and transcriptomic data from breast, ovarian, and prostate cancers were aggregated and analysed using differential gene expression methods to identify the effect of specific mutations on the expression of multiple genes. Mutated genes associated with the most differentially expressed genes were considered to be novel candidates for driver mutations, and were validated through literature mining, pathway analysis and clinical data investigation. Our driver selection method successfully identified 116 probable novel cancer-causing genes, with 4 discovered in patients having no alterations in any known driver genes: MXRA5, OBSCN, RYR1, and TG. The candidate genes previously not officially classified as cancer-causing showed enrichment in cancer pathways and in cancer diseases. They also matched expectations pertaining to properties of cancer genes, for instance, showing larger gene and protein lengths, and having mutation patterns suggesting oncogenic or tumor suppressor properties. Our approach allows for the identification of novel putative driver genes that are common across cancer sites using an unbiased approach without any a priori knowledge on pathways or gene interactions and is therefore an agnostic approach to the identification of putative common driver genes acting at multiple cancer sites.

DOT: a crowdsourcing Mobile application for disease outbreak detection and surveillance in Mauritius.

Early detection of disease outbreaks is crucial and even small improvements in detection can significantly impact on a country's public health. In this work, we investigate the use of a crowdsourcing application and a real-time disease outbreak surveillance system for five diseases; Influenza, Gastroenteritis, Upper Respiratory Tract Infection (URTI), Scabies and Conjunctivitis, that are closely monitored in Mauritius. We also analyze and correlate the collected data with past statistics. A crowdsourcing mobile application known as Disease Outbreak Tracker (DOT) was implemented and made public. A real-time disease surveillance system using the Early Aberration Reporting System algorithm (EARS) for analysis of the collected data was also implemented. The collected data were correlated to historical data for 2017. Data were successfully collected and plotted on a daily basis. The results show that a few cases of Flu and Scabies were reported in some districts. The EARS methods C1, C2 and C3 also depicted spikes above the set threshold on some days. The study covers data collected over a period of one month. Once symptoms data were collected using DOT, probabilistic methods were used to find the disease or diseases that the user was suffering from. The data were further processed to find the extent of the disease outbreak district-wise, per disease. These data were represented graphically for a rapid understanding of the situation in each district. Our findings concur with existing data for the same period for previous years showing that the crowdsourcing application can aid in the detection of disease outbreaks.

Recent advances in computational tools and resources for the self-management of type 2 diabetes.

Background: While healthcare systems are investing resources on type 2 diabetes patients, self-management is becoming the new trend for these patients. Due to the pervasiveness of computing devices, a number of computerized systems are emerging to support the self-management of patients.Objective: The primary objective of this review is to identify and categorize the computational tools that exist for the self-management of type 2 diabetes, and to identify challenges that need to be addressed.Results: The tools have been categorized into web applications, mobile applications, games and ubiquitous diabetes management systems. We provide a detailed description of the salient features of each category along with a comparison of the various tools, listing their challenges and practical implications. A list of platforms that can be used to develop new tools for the self-management of type 2 diabetes, namely mobile applications development, sensor development, cloud computing, social media, and machine learning and predictive analysis platforms, are also provided.Discussions: This paper identifies a number of challenges in the existing categories of computational tools and consequently presents possible avenues for future research. Failure to address these issues will negatively impact on the adoption rate of the self-management tools and applications.

Proposed minimum information guideline for kidney disease-research and clinical data reporting: a cross-sectional study.

OBJECTIVE: This project aimed to develop and propose a standardised reporting guideline for kidney disease research and clinical data reporting, in order to improve kidney disease data quality and integrity, and combat challenges associated with the management and challenges of 'Big Data'. METHODS: A list of recommendations was proposed for the reporting guideline based on the systematic review and consolidation of previously published data collection and reporting standards, including PhenX measures and Minimal Information about a Proteomics Experiment (MIAPE). Thereafter, these recommendations were reviewed by domain-specialists using an online survey, developed in Research Electronic Data Capture (REDCap). Following interpretation and consolidation of the survey results, the recommendations were mapped to existing ontologies using Zooma, Ontology Lookup Service and the Bioportal search engine. Additionally, an associated eXtensible Markup Language schema was created for the REDCap implementation to increase user friendliness and adoption. RESULTS: The online survey was completed by 53 respondents; the majority of respondents were dual clinician-researchers (57%), based in Australia (35%), Africa (33%) and North America (22%). Data elements within the reporting standard were identified as participant-level, study-level and experiment-level information, further subdivided into essential or optional information. CONCLUSION: The reporting guideline is readily employable for kidney disease research projects, and also adaptable for clinical utility. The adoption of the reporting guideline in kidney disease research can increase data quality and the value for long-term preservation, ensuring researchers gain the maximum benefit from their collected and generated data.

Comparison of genomic islands in cyanobacteria: Evidence of bacteriophage-mediated horizontal gene transfer from eukaryotes.

A number of examples of putative eukaryote-to-prokaryote horizontal gene transfer (HGT) have been proposed in the past using phylogenetic analysis in support of these claims but none have attempted to map these gene transfers to the presence of genomic islands (GIs) in the host. Two of these cases have been examined in detail, including an ATP sulfurylase (ATPS) gene and a class I fructose bisphosphate aldolase (FBA I) gene that were putatively transferred to cyanobacteria of the genus Prochlorococcus from either green or red algae, respectively. Unlike previous investigations of HGT, parametric methods were initially used to detect genomic islands, then more traditional phylogenomic and phylogenetic methods were used to confirm or deny the HGT status of these genes. The combination of these three methods of analysis- detection of GIs, the determination of genomic neighborhoods, as well as traditional phylogeny, lends strong support to the claim that trans-domain HGT has occurred in only one of these cases and further suggests a new insight into the method of transmission of FBA I, namely that cyanophage-mediated transfer may have been responsible for the HGT event in question. The described methods were then applied to a range of prochlorococcal genomes in order to characterize a candidate for eukaryote-to-prokaryote HGT that had not been previously studied by others. Application of the same methodology used to confirm or deny HGT for ATPS and FBA I identified a ⊗12 fatty acid desaturase (FAD) gene that was likely transferred to Prochlorococcus from either green or red algae.

Development of Bioinformatics Infrastructure for Genomics Research.

BACKGROUND: Although pockets of bioinformatics excellence have developed in Africa, generally, large-scale genomic data analysis has been limited by the availability of expertise and infrastructure. H3ABioNet, a pan-African bioinformatics network, was established to build capacity specifically to enable H3Africa (Human Heredity and Health in Africa) researchers to analyze their data in Africa. Since the inception of the H3Africa initiative, H3ABioNet's role has evolved in response to changing needs from the consortium and the African bioinformatics community. OBJECTIVES: H3ABioNet set out to develop core bioinformatics infrastructure and capacity for genomics research in various aspects of data collection, transfer, storage, and analysis. METHODS AND RESULTS: Various resources have been developed to address genomic data management and analysis needs of H3Africa researchers and other scientific communities on the continent. NetMap was developed and used to build an accurate picture of network performance within Africa and between Africa and the rest of the world, and Globus Online has been rolled out to facilitate data transfer. A participant recruitment database was developed to monitor participant enrollment, and data is being harmonized through the use of ontologies and controlled vocabularies. The standardized metadata will be integrated to provide a search facility for H3Africa data and biospecimens. Because H3Africa projects are generating large-scale genomic data, facilities for analysis and interpretation are critical. H3ABioNet is implementing several data analysis platforms that provide a large range of bioinformatics tools or workflows, such as Galaxy, the Job Management System, and eBiokits. A set of reproducible, portable, and cloud-scalable pipelines to support the multiple H3Africa data types are also being developed and dockerized to enable execution on multiple computing infrastructures. In addition, new tools have been developed for analysis of the uniquely divergent African data and for downstream interpretation of prioritized variants. To provide support for these and other bioinformatics queries, an online bioinformatics helpdesk backed by broad consortium expertise has been established. Further support is provided by means of various modes of bioinformatics training. CONCLUSIONS: For the past 4 years, the development of infrastructure support and human capacity through H3ABioNet, have significantly contributed to the establishment of African scientific networks, data analysis facilities, and training programs. Here, we describe the infrastructure and how it has affected genomics and bioinformatics research in Africa.