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Christopher E. Mason

Publications and source records attributed to Christopher E. Mason.

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Building AI-Ready Data Systems for Space Life Sciences, Aerospace Medicine, and Deep Space Exploration

While AI holds the potential to revolutionize space life sciences, realizing this promise is contingent upon the systematic restructuring of heterogeneous spaceflight biological data into machine-actionable, AI-ready forms. Even though open access principles support human reuse and scientific reproducibility, this does not necessarily enable AI systems to access and analyze such a diverse set of scientific datasets. In addition, the growing array of AI approaches places distinct demands on data structure, metadata, and access interfaces. In order to respond to such growing changes we propose a three-tier approach, proceeding from FAIR to AI-ready to space-ready data. We discuss existing infrastructures and how they can be improved to close the AI access gap. We conclude by proposing a neutral international coordinating body as the governance backbone for the trustworthy, agent-accessible space biology infrastructure that deep space biological research will require.

q-bio.OT

A decentralized future for the open-science databases

Continuous and reliable access to curated biological data repositories is indispensable for accelerating rigorous scientific inquiry and fostering reproducible research. Centralized repositories, though widely used, are vulnerable to single points of failure arising from cyberattacks, technical faults, natural disasters, or funding and political uncertainties. This can lead to widespread data unavailability, data loss, integrity compromises, and substantial delays in critical research, ultimately impeding scientific progress. Centralizing essential scientific resources in a single geopolitical or institutional hub is inherently dangerous, as any disruption can paralyze diverse ongoing research. The rapid acceleration of data generation, combined with an increasingly volatile global landscape, necessitates a critical re-evaluation of the sustainability of centralized models. Implementing federated and decentralized architectures presents a compelling and future-oriented pathway to substantially strengthen the resilience of scientific data infrastructures, thereby mitigating vulnerabilities and ensuring the long-term integrity of data. Here, we examine the structural limitations of centralized repositories, evaluate federated and decentralized models, and propose a hybrid framework for resilient, FAIR, and sustainable scientific data stewardship. Such an approach offers a significant reduction in exposure to governance instability, infrastructural fragility, and funding volatility, and also fosters fairness and global accessibility. The future of open science depends on integrating these complementary approaches to establish a globally distributed, economically sustainable, and institutionally robust infrastructure that safeguards scientific data as a public good, further ensuring continued accessibility, interoperability, and preservation for generations to come.

cs.DB

SARS-CoV-2 Wastewater Genomic Surveillance: Approaches, Challenges, and Opportunities

During the SARS-CoV-2 pandemic, wastewater-based genomic surveillance (WWGS) emerged as an efficient viral surveillance tool that takes into account asymptomatic cases and can identify known and novel mutations and offers the opportunity to assign known virus lineages based on the detected mutations profiles. WWGS can also hint towards novel or cryptic lineages, but it is difficult to clearly identify and define novel lineages from wastewater (WW) alone. While WWGS has significant advantages in monitoring SARS-CoV-2 viral spread, technical challenges remain, including poor sequencing coverage and quality due to viral RNA degradation. As a result, the viral RNAs in wastewater have low concentrations and are often fragmented, making sequencing difficult. WWGS analysis requires advanced computational tools that are yet to be developed and benchmarked. The existing bioinformatics tools used to analyze wastewater sequencing data are often based on previously developed methods for quantifying the expression of transcripts or viral diversity. Those methods were not developed for wastewater sequencing data specifically, and are not optimized to address unique challenges associated with wastewater. While specialized tools for analysis of wastewater sequencing data have also been developed recently, it remains to be seen how they will perform given the ongoing evolution of SARS-CoV-2 and the decline in testing and patient-based genomic surveillance. Here, we discuss opportunities and challenges associated with WWGS, including sample preparation, sequencing technology, and bioinformatics methods.

q-bio.GN

The Challenges and Opportunities in Creating an Early Warning System for Global Pandemics

The COVID-19 pandemic revealed that global health, social systems, and economies can be surprisingly fragile in an increasingly interconnected and interdependent world. Yet, during the last half of 2022, and quite remarkably, we began dismantling essential infectious disease monitoring programs in several countries. Absent such programs, localized biological risks will transform into global shocks linked directly to our lack of foresight regarding emerging health risks. Additionally, recent studies indicate that more than half of all infectious diseases could be made worse by climate change, complicating pandemic containment. Despite this complexity, the factors leading to pandemics are largely predictable but can only be realized through a well-designed global early warning system. Such a system should integrate data from genomics, climate and environment, social dynamics, and healthcare infrastructure. The glue for such a system is community-driven modeling, a modern logistics of data, and democratization of AI tools. Using the example of dengue fever in Brazil, we can demonstrate how thoughtfully designed technology platforms can build global-scale precision disease detection and response systems that significantly reduce exposure to systemic shocks, accelerate science-informed public health policies, and deliver reliable healthcare and economic opportunities as an intrinsic part of the global sustainable development agenda.

q-bio.QM

Beyond Low Earth Orbit: Biomonitoring, Artificial Intelligence, and Precision Space Health

Human space exploration beyond low Earth orbit will involve missions of significant distance and duration. To effectively mitigate myriad space health hazards, paradigm shifts in data and space health systems are necessary to enable Earth-independence, rather than Earth-reliance. Promising developments in the fields of artificial intelligence and machine learning for biology and health can address these needs. We propose an appropriately autonomous and intelligent Precision Space Health system that will monitor, aggregate, and assess biomedical statuses; analyze and predict personalized adverse health outcomes; adapt and respond to newly accumulated data; and provide preventive, actionable, and timely insights to individual deep space crew members and iterative decision support to their crew medical officer. Here we present a summary of recommendations from a workshop organized by the National Aeronautics and Space Administration, on future applications of artificial intelligence in space biology and health. In the next decade, biomonitoring technology, biomarker science, spacecraft hardware, intelligent software, and streamlined data management must mature and be woven together into a Precision Space Health system to enable humanity to thrive in deep space.

q-bio.OT

Beyond Low Earth Orbit: Biological Research, Artificial Intelligence, and Self-Driving Labs

Space biology research aims to understand fundamental effects of spaceflight on organisms, develop foundational knowledge to support deep space exploration, and ultimately bioengineer spacecraft and habitats to stabilize the ecosystem of plants, crops, microbes, animals, and humans for sustained multi-planetary life. To advance these aims, the field leverages experiments, platforms, data, and model organisms from both spaceborne and ground-analog studies. As research is extended beyond low Earth orbit, experiments and platforms must be maximally autonomous, light, agile, and intelligent to expedite knowledge discovery. Here we present a summary of recommendations from a workshop organized by the National Aeronautics and Space Administration on artificial intelligence, machine learning, and modeling applications which offer key solutions toward these space biology challenges. In the next decade, the synthesis of artificial intelligence into the field of space biology will deepen the biological understanding of spaceflight effects, facilitate predictive modeling and analytics, support maximally autonomous and reproducible experiments, and efficiently manage spaceborne data and metadata, all with the goal to enable life to thrive in deep space.

q-bio.OT

Metagenomics for clinical diagnostics: technologies and informatics

The human-associated microbiome is closely tied to human health and is of substantial clinical interest. Metagenomics-based tools are emerging for clinical diagnostics, tracking the spread of diseases, and surveillance of potential pathogens. In some cases, these tools are overcoming limitations of traditional clinical approaches. Metagenomics has limitations barring the tools from clinical validation. Once these hurdles are overcome, clinical metagenomics will inform doctors of the best, targeted treatment for their patients and provide early detection of disease. Here we present an overview of metagenomics methods with a discussion of computational challenges and limitations.

q-bio.QM

Assessing Technical Performance in Differential Gene Expression Experiments with External Spike-in RNA Control Ratio Mixtures

There is a critical need for standard approaches to assess, report, and compare the technical performance of genome-scale differential gene expression experiments. We assess technical performance with a proposed "standard" dashboard of metrics derived from analysis of external spike-in RNA control ratio mixtures. These control ratio mixtures with defined abundance ratios enable assessment of diagnostic performance of differentially expressed transcript lists, limit of detection of ratio (LODR) estimates, and expression ratio variability and measurement bias. The performance metrics suite is applicable to analysis of a typical experiment, and here we also apply these metrics to evaluate technical performance among laboratories. An interlaboratory study using identical samples shared amongst 12 laboratories with three different measurement processes demonstrated generally consistent diagnostic power across 11 laboratories. Ratio measurement variability and bias were also comparable amongst laboratories for the same measurement process. Different biases were observed for measurement processes using different mRNA enrichment protocols.

q-bio.GN

Comprehensive evaluation of differential expression analysis methods for RNA-seq data

High-throughput sequencing of RNA transcripts (RNA-seq) has become the method of choice for detection of differential expression (DE). Concurrent with the growing popularity of this technology there has been a significant research effort devoted towards understanding the statistical properties of this data and the development of analysis methods. We report on a comprehensive evaluation of the commonly used DE methods using the SEQC benchmark data set. We evaluate a number of key features including: assessment of normalization, accuracy of DE detection, modeling of genes expressed in only one condition, and the impact of sequencing depth and number of replications on identifying DE genes. We find significant differences among the methods with no single method consistently outperforming the others. Furthermore, the performance of array-based approach is comparable to methods customized for RNA-seq data. Perhaps most importantly, our results demonstrate that increasing the number of replicate samples provides significantly more detection power than increased sequencing depth.

q-bio.GN