Bioinformatics (2020) doi: 10.1093/bioinformatics/btaa961 Upon the original publication of this article, there was an error in the source code syntax under sub-section “2.2 Integration of epidemiological evidence” in the “Materials and methods” section. The source code syntax should read: “(e.g. (Gwas {trait: ‘Body mass index’})-[MR {beta, se, pval}]->(Gwas {trait: ‘Coronary heart disease’}))” instead of “ (e.g. [Gwas (trait: ‘Body mass index’)]-[MR {beta, se, pval}]->(Gwas {trait: ‘Coronary heart disease’})))”. This error has now been corrected. The Publisher apologizes for the error.

MOTIVATION: The wealth of data resources on human phenotypes, risk factors, molecular traits and therapeutic interventions presents new opportunities for population health sciences. These opportunities are paralleled by a growing need for data integration, curation and mining to increase research efficiency, reduce mis-inference and ensure reproducible research. RESULTS: We developed EpiGraphDB (https://epigraphdb.org/), a graph database containing an array of different biomedical and epidemiological relationships and an analytical platform to support their use in human population health data science. In addition, we present three case studies that illustrate the value of this platform. The first uses EpiGraphDB to evaluate potential pleiotropic relationships, addressing mis-inference in systematic causal analysis. In the second case study, we illustrate how protein-protein interaction data offer opportunities to identify new drug targets. The final case study integrates causal inference using Mendelian randomization with relationships mined from the biomedical literature to 'triangulate' evidence from different sources. AVAILABILITY AND IMPLEMENTATION: The EpiGraphDB platform is openly available at https://epigraphdb.org. Code for replicating case study results is available at https://github.com/MRCIEU/epigraphdb as Jupyter notebooks using the API, and https://mrcieu.github.io/epigraphdb-r using the R package. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

There has been an exponential growth in the performance and output of sequencing technologies (omics data) with full genome sequencing now producing gigabases of reads on a daily basis. These data may hold the promise of personalized medicine, leading to routinely available sequencing tests that can guide patient treatment decisions. In the era of high-throughput sequencing (HTS), computational considerations, data governance and clinical translation are the greatest rate-limiting steps. To ensure that the analysis, management and interpretation of such extensive omics data is exploited to its full potential, key factors, including sample sourcing, technology selection and computational expertise and resources, need to be considered, leading to an integrated set of high-performance tools and systems. This article provides an up-to-date overview of the evolution of HTS and the accompanying tools, infrastructure and data management approaches that are emerging in this space, which, if used within in a multidisciplinary context, may ultimately facilitate the development of personalized medicine.

We have reached the era of full genome sequencing using high throughput sequencing technologies pouring out gigabases of reads in a day. To fully benefit from such a profusion of data high performance tools and systems are needed to extract the information lying within the sequences. This paper provides an overview of the evolution of high-throughput sequencing and the tools, infrastructure and data management developing in this space to support a key area in personalized medicine. The paper concludes by providing an outlook in the future of such technologies and their applications and how they might shape clinical governance.

The analysis of biological markers (biomarkers) have the ability to improve clinical outcomes of a disease through prediction and early detection. The constant improvement of next generation sequencing (NGS) technologies coupled with falling equipment price are driving research and application especially in the medical domain. NGS technology is being applied to cancer research promising greater understanding of carcinogenesis. However, as sequence capacity grows, algorithmic speed is becoming an important bottleneck. To understand these challenges we present a review on difficulties currently faced in discovering biomarkers. The review places the spotlight on sequencing technologies and the bottlenecks encountered in these pipelines. Cloud computing and high performance computing technologies such as Grid are summarized in tackling computational challenges presented by technologies and algorithms used in biomarker research.

Recently, research has focused on processing tasks that require continuous execution to produce data in a real-time manner. Such tasks often also need to be executed for long periods of time such as years, requiring large amounts of resources (e.g. CPUs) that can be found in a Grid. However, a Grid may be unwilling or unable to allocate resources for continuous usage far in advance, because of high fluctuations in resource availability and/or resource demand. Therefore, a client must relax its requirements in terms of long-term execution, and negotiate a shorter period of execution time; when this period ends, the client must negotiate again to continue task's execution. We propose a negotiation strategy, ConTask, which helps to increase the periods of execution time, and reduce the length of interruptions between them.