Mark D Wilkinson

• PhD
• Researcher at Universidad Politécnica de Madrid

A key source of biodiversity preservation is in the ex situ storage of seed in what are known as germplasm banks (GBs). Unfortunately, wild species germplasm bank databases, often maintained by resource-limited botanical gardens, are highly disparate and capture information about their collections in a wide range of underlying data formats, storage...

Main conclusion In Brassica rapa, the epigenetic modifier BraA.CLF orchestrates flowering by modulating H3K27me3 levels at the floral integrator genes FT, SOC1, and SEP3, thereby influencing their expression. Abstract CURLY LEAF (CLF) is the catalytic subunit of the plant Polycomb Repressive Complex 2 that mediates the trimethylation of histone H3...

Myriad policy, ethical and legal considerations underpin the sharing of biological resources, implying the need for standardised and yet flexible ways to digitally represent diverse ‘use conditions’. We report a core lexicon of terms that are atomic, non-directional ‘concepts of use’, called Common Conditions of use Elements. This work engaged biob...

Improving patient care and advancing scientific discovery requires responsible sharing of research data, healthcare records, biosamples, and biomedical resources that must also respect applicable use conditions. Defining a standard to structure and manage these use conditions is a complex and challenging task. This is exemplified by a near unlimite...

The lack of interoperable data standards among reference genome data-sharing platforms inhibits cross-platform analysis while increasing the risk of data provenance loss. Here, we describe the FAIR bioHeaders Reference genome (FHR), a metadata standard guided by the principles of Findability, Accessibility, Interoperability and Reuse (FAIR) in addi...

Background The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and impactful. The consenting process covers other uses, such as research, cohort finding and trial readiness. Result...

The lack of interoperable data standards among reference genome data-sharing platforms inhibits cross-platform analysis while increasing the risk of data provenance loss. Here, we describe the FAIR-bioHeaders Reference genome (FHR), a metadata standard guided by the principles of Findability, Accessibility, Interoperability, and Reuse (FAIR) in add...

Since 2014, “Bring Your Own Data” workshops (BYODs) have been organised to inform people about the process and benefits of making resources Findable, Accessible, Interoperable, and Reusable (FAIR, and the FAIRification process). The BYOD workshops’ content and format differ depending on their goal, context, and the background and needs of participa...

Although FAIR Research Data Principles are targeted at and implemented by different communities, research disciplines, and research stakeholders (data stewards, curators, etc.), there is no conclusive way to determine the level of FAIRness intended or required to make research artefacts (including, but not limited to, research data) Findable, Acces...

Interoperability between clinical datasets is challenging due to, in part, the number of data models and vocabularies in use and the variety of implementations. Here we describe the first steps in an ongoing effort to achieve interoperability between two clinical datasets currently being constructed within independent international projects. Both a...

Background Soil microorganisms are in constant interaction with plants, and these interactions shape the composition of soil bacterial communities by modifying their environment. However, little is known about the relationship between microorganisms and native plants present in extreme environments that are not affected by human intervention. Using...

Although FAIR Research Data Principles are targeted at and implemented by different communities, research disciplines, and research stakeholders (data stewards, curators, etc.), there is no conclusive way to determine the level of FAIRness intended or required to make research artefacts (including, but not limited to, research data) Findable, Acces...

Introduction Rare disease patient data are typically sensitive, present in multiple registries controlled by different custodians, and non-interoperable. Making these data Findable, Accessible, Interoperable, and Reusable (FAIR) for humans and machines at source enables federated discovery and analysis across data custodians. This facilitates accur...

Although FAIR Research Data Principles are targeted at and implemented by different communities, research disciplines, and research stakeholders (data stewards, curators, etc.), there is no conclusive way to determine the level of FAIRness intended or required to make research artefacts (including, but not limited to, research data) Findable, Acces...

While the FAIR Principles do not specify a technical solution for ‘FAIRness’, it was clear from the outset of the FAIR initiative that it would be useful to have commodity software and tooling that would simplify the creation of FAIR-compliant resources. The FAIR Data Point is a metadata repository that follows the DCAT(2) schema, and utilizes the...

Metadata, data about other digital objects, play an important role in FAIR with a direct relation to all FAIR principles. In this paper we present and discuss the FAIR Data Point (FDP), a software architecture aiming to define a common approach to publish semantically-rich and machine-actionable metadata according to the FAIR principles. We present...

The accumulation of the auxin precursor indole-3-acetamide (IAM) in the ami1 mutant has recently been reported to reduce plant growth and to trigger abiotic stress responses in Arabidopsis thaliana. The observed response includes the induction of abscisic acid (ABA) biosynthesis through the promotion of NCED3 expression. The mechanism by which plan...

To improve the sharing and reuse of research software,

Introduction Rare disease patient data are typically sensitive, present in multiple registries controlled by different custodians, and non-interoperable. Making these data Findable, Accessible, Interoperable, and Reusable (FAIR) for humans and machines at source enables federated discovery and analysis across data custodians. This facilitates accur...

Background The European Platform on Rare Disease Registration (EU RD Platform) aims to address the fragmentation of European rare disease (RD) patient data, scattered among hundreds of independent and non-coordinating registries, by establishing standards for integration and interoperability. The first practical output of this effort was a set of 1...

Epigenetic regulation is necessary for optimal organism development and preservation of gene expression profiles in the cell. In plants, the trimethylation of histone H3 lysine 27 (H3K27me3) is a silencing epigenetic mark relevant for developmental transitions like flowering. The floral transition is a key agronomic trait, however the epigenetic me...

Research using health data is challenged by its heterogeneous nature, description and storage. The COVID-19 outbreak made clear that rapid analysis of observations such as clinical measurements across a large number of healthcare providers can have enormous health benefits. This has brought into focus the need for a common model of quantitative hea...

Background The European Platform on Rare Disease Registration (EU RD Platform) aims to address the fragmentation of European rare disease (RD) patient data, scattered among hundreds of independent and non-coordinating registries, by establishing standards for integration and interoperability. The first practical output of this effort was a set of 1...

The evolutionary success of plants relies to a large extent on their extraordinary ability to adapt to changes in their environment. These adaptations require that plants balance their growth with their stress responses. Plant hormones are crucial mediators orchestrating the underlying adaptive processes. However, whether and how the growth-related...

Motivation: Microbial communities influence their environment by modifying the availability of compounds such as nutrients or chemical elicitors. Knowing the microbial composition of a site is therefore relevant to improving productivity or health. However, sequencing facilities are not always available, or may be prohibitively expensive in some ca...

Motivation Microbial communities influence their environment by modifying the availability of compounds such as nutrients or chemical elicitors. Knowing the microbial composition of a site is therefore relevant to improving productivity or health. However, sequencing facilities are not always available, or may be prohibitively expensive in some cas...

The evolutionary success of plants relies to a large extent on their extraordinary ability to adapt to changes in their environment. These adaptations require that plants balance their growth with their stress responses. Plant hormones are crucial mediators orchestrating the underlying adaptive processes. However, whether and how the growth-related...

Motivation: Microbial communities influence their environment by modifying the availability of compounds such as nutrients or chemical elicitors. Knowing the microbial composition of a site is therefore relevant to improving productivity or health. However, sequencing facilities are not always available, or may be prohibitively expensive in some ca...

The grammatical structures scholars use to express their assertions are intended to convey various degrees of certainty or speculation. Prior studies have suggested a variety of categorization systems for scholarly certainty; however, these have not been objectively tested for their validity, particularly with respect to representing the interpreta...

Background : There are few large longitudinal microbiome studies, and fewer that include controlled, well-annotated perturbations between sampling-points. Thus, there are few opportunities to employ data-driven computational analyses of perturbed microbial communities over time. Results : Our novel computational system simulates the dynamics of mic...

Background: There are few large longitudinal microbiome studies, and fewer that include controlled, well-annotated perturbations between sampling-points. Thus, there are few opportunities to employ data-driven computational analyses of perturbed microbial communities over time. Results: Our novel computational system simulates the dynamics of micr...

We report on the activities of the 2015 edition of the BioHackathon, an annual event that brings together researchers and developers from around the world to develop tools and technologies that promote the reusability of biological data. We discuss issues surrounding the representation, publication, integration, mining and reuse of biological data...

The FAIR principles have been widely cited, endorsed and adopted by a broad range of stakeholders since their publication in 2016. By intention, the 15 FAIR guiding principles do not dictate specific technological implementations, but provide guidance for improving Findability, Accessibility, Interoperability and Reusability of digital resources. T...

The grammatical structures scholars use to express their assertions are intended to convey various degrees of certainty or speculation. Prior studies have suggested a variety of categorization systems for scholarly certainty; however, these have not been objectively tested for their validity, particularly with respect to representing the interpreta...

Background: Genome-wide maps of histone modifications have been obtained for several plant species. However, most studies focus on model systems and do not enforce FAIR data management principles. Here we study the H3K27me3 epigenome and associated transcriptome of Brassica rapa, an important vegetable cultivated worldwide. Findings: We performe...

Motivation: Data produced by metagenomic studies has multiple layers of complexity. Even 16S taxonomic analyses result in high-dimensional, extremely complex data that thwarts knowledge discovery. In this study, we describe a strategy to reduce the dimensionality of microbiome datasets, such that they can be interrogated and explored more easily....

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Publishing databases in the Resource Description Framework (RDF) model is becoming widely accepted to maximize the syntactic and semantic interoperability of open data in life sciences. Here we report advancements made in the 6th and 7th annual BioHackathons which were held in Tokyo and Miyagi respectively. This review consists of two major section...

Transparent evaluations of FAIRness are increasingly required by a wide range of stakeholders, from scientists to publishers, funding agencies and policy makers. We propose a scalable, automatable framework to evaluate digital resources that encompasses measurable indicators, open source tools, and participation guidelines, which come together to a...

There are few large longitudinal microbiome studies, and fewer that include planned, annotated perturbations between sampling-points. Thus, there are few opportunities to employ data-driven computational analyses of perturbed microbial communities over time. Our novel computational system simulates the dynamics of microbial communities under pertu...

The grammatical structures scholars use to express their assertions are intended to convey various degrees of certainty or speculation. Prior studies have suggested a variety of categorization systems for scholarly certainty. However, these have not been objectively tested for their validity, particularly with respect to representing the interpreta...

The grammatical structures scholars use to express their assertions are intended to convey various degrees of certainty or speculation. Prior studies have suggested a variety of categorization systems for scholarly certainty. However, these have not been objectively tested for their validity, particularly with respect to representing the interpreta...

Transparent evaluations of FAIRness are increasingly required by a wide range of stakeholders, from scientists to publishers, funding agencies and policy makers. We propose a scalable, automatable framework to evaluate digital resources that encompasses measurable indicators, open source tools, and participation guidelines, which come together to a...

Analysis of microbiome dynamics would allow elucidation of patterns within microbial community evolution under a variety of biologically or economically important circumstances; however, this is currently hampered in part by the lack of rigorous, formal, yet generally-applicable approaches to discerning distinct configurations of complex microbial...

There is a growing acknowledgement in the scientific community of the importance of making experimental data machine findable, accessible, interoperable, and reusable (FAIR). Recognizing that high quality metadata are essential to make datasets FAIR, members of the GO FAIR Initiative and the Research Data Alliance (RDA) have initiated a series of w...

Polyadenylation plays an important role in gene regulation, thus affecting a wide variety of biological processes. In the rice blast fungus Magnaporthe oryzae the cleavage factor I protein Rpb35 is required for pre-mRNA polyadenylation and fungal virulence. Here we present the bioinformatic approach and output data related to a global survey of pol...

The volume of scholarly articles published every year has doubled in the last two decade; in the biomedical domain rising from ~ 300,000 articles in 1996 to more than 800,000 in 2016. As a consequence, researchers cannot read all articles, even in their own domain; yet to appear "comparatively competitive", scholars are nevertheless pressured to pu...

With the increased adoption of the FAIR Principles, a wide range of stakeholders, from scientists to publishers, funding agencies and policy makers, are seeking ways to transparently evaluate resource FAIRness. We describe the FAIR Evaluator, a software infrastructure to register and execute tests of compliance with the recently published FAIR Metr...

Motivation Recent microbiome dynamics studies highlight the current inability to predict the effects of external perturbations on complex microbial populations. To do so would be particularly advantageous in fields such as medicine, bioremediation or industrial scenarios. Results MDPbiome statistically models longitudinal metagenomics samples unde...

Generation of mRNA isoforms by alternative polyadenylation (APA) and their involvement in regulation of fungal cellular processes, including virulence, remains elusive. Here, we investigated genome‐wide polyadenylation site (PAS) selection in the rice blast fungus to understand how APA regulates pathogenicity. More than half of Magnaporthe oryzae t...

Motivation: Several recent microbiome dynamics studies highlight the inability to predict the effects of external perturbations on complex microbial populations. Methods: This study examines longitudinal metagenomics data modelled as a Markov Decision Process (MDP). Given a starting microbial composition, our MDPbiome system suggests the sequence...

Rett syndrome (RTT) is a monogenic rare disorder that causes severe neurological problems. In most cases it results from a loss of function mutation in the gene encoding methyl‐CPG‐binding protein 2 (MECP2). Currently, about 900 unique MECP2 variations (benign and pathogenic) have been identified and it is suspected that the different mutations con...

The analysis of microbiome dynamics would allow us to elucidate patterns within microbial community evolution; however, microbiome state-transition dynamics have been scarcely studied. This is in part because a necessary first-step in such analyses has not been well-defined: how to deterministically describe a microbiome’s ”state”. Clustering in st...

The analysis of microbiome dynamics would allow us to elucidate patterns within microbial community evolution; however, microbiome state-transition dynamics have been scarcely studied. This is in part because a necessary first-step in such analyses has not been well-defined: how to deterministically describe a microbiome’s ”state”. Clustering in st...

The ability to combine heterogeneous data distributed across the globe is critically important to boost research on rare diseases, but it presents a number of methodological, representational and automation challenges. In this scenario, biomedical ontologies are of critical importance for enabling computers to aid in information retrieval and analy...

“FAIRness” - the degree to which a digital resource is Findable, Accessible, Interoperable, and Reusable - is aspirational, yet the means of reaching it may be defined by increased adherence to measurable indicators. We report on the production of a core set of semi-quantitative metrics having universal applicability for the evaluation of FAIRness,...

Data in the life sciences are extremely diverse and are stored in a broad spectrum of repositories ranging from those designed for particular data types (such as KEGG for pathway data or UniProt for protein data) to those that are general-purpose (such as FigShare, Zenodo, Dataverse or EUDAT). These data have widely different levels of sensitivity...

In this study we characterize a novel positive and single stranded RNA (ssRNA) mycovirus isolated from the rice field isolate of Magnaporthe oryzae Guy11. The ssRNA contains a single open reading frame (ORF) of 2,373 nucleotides in length and encodes an RNA-dependent RNA polymerase (RdRp) closely related to ourmiaviruses (plant viruses) and ourmia-...

The FAIR Data Principles propose that all scholarly output should be Findable, Accessible, Interoperable, and Reusable. As a set of guiding principles, expressing only the kinds of behaviours that researchers should expect from contemporary data resources, how the FAIR principles should manifest in reality was largely open to interpretation. As sup...

Data in the life sciences are extremely diverse and are stored in a broad spectrum of repositories ranging from those designed for particular data types (such as KEGG for pathway data or UniProt for protein data) to those that are general-purpose (such as FigShare, Zenodo, Dataverse or EUDAT). These data have widely different levels of sensitivity...

Principles of Findable, Accessible, Interoperable, and Reusable data for humans and computers (FAIR)1are widely endorsed by organizations such as the Euro- pean Open Science Cloud, the life science data infrastructure ELIXIR, the NIH via its commons program, the biobanking infrastructure consortium BBMRI- ERIC, the G20 and the G7. Implementing a da...

Data in the life sciences are extremely diverse and are stored in a broad spectrum of repositories ranging from those designed for particular data types (such as KEGG for pathway data or UniProt for protein data) to those that are general-purpose (such as FigShare, Zenodo, or EUDat). These data have widely different levels of sensitivity and securi...

With the evolution and widespread adoption of contemporary information technologies, data has taken an increasingly central role in areas such as enterprise operations, financial markets, transportation, logistics and scientific investigation. While on one hand this protagonism of data brings significant benefits for the individuals and organizatio...

With the evolution and widespread adoption of contemporary information technologies, data has taken an increasingly central role in almost all areas of human activity. While on one hand this protagonism of data brings significant benefits for the individuals and organizations, on the other hand it is accompanied by a number of challenges. In the do...

Scholarly publications are the primary scientific output. The hypotheses that form the basis of these publications are based on scholarly assertions from prior publications. Worryingly, evidence shows that cited assertions may "drift" in their meaning, transforming (superficially or deeply) the original claim. This effect that can worsen through ch...

Pathogen-Host interaction data is core to our understanding of disease processes and their molecular/genetic bases. Facile access to such core data is particularly important for the plant sciences, where individual genetic and phenotypic observations have the added complexity of being dispersed over a wide diversity of plant species vs. the relativ...

Motivation: Most microbiome analyses consider the population to be static. We examine microbiomes as dynamic systems, and attempt to model, and predict, their response to interventions, with the goal of empowering microbiome engineering plans. Methods: This study examines longitudinal metagenomics data modelled as a Markov Decision Process (MDP),...

Motivation: There are few tools that allow longitudinal analysis of metagenomic data subjected to distinct perturbations. Methods: This study examines longitudinal metagenomics data modelled as a Markov Decision Process (MDP). Given an external perturbation, the MDP predicts the next microbiome state in a temporal sequence, selected from a finite...

There is an urgent need to improve the infrastructure supporting the reuse of scholarly data. A diverse set of stakeholders—representing academia, industry, funding agencies, and scholarly publishers—have come together to design and jointly endorse a concise and measureable set of principles that we refer to as the FAIR Data Principles. The intent...

Data in the life sciences are extremely diverse and are stored in a broad spectrum of repositories ranging from those designed for particular data types (such as KEGG for pathway data or UniProt for protein data) to those that are general-purpose (such as FigShare, Zenodo, or EUDat). These data have widely different levels of sensitivity and securi...

Background Semantic Web technologies have been widely applied in the life sciences, for example by data providers such as OpenLifeData and through web services frameworks such as SADI. The recently reported OpenLifeData2SADI project offers access to the vast OpenLifeData data store through SADI services. Findings This article describes how to merg...

In the creation of diagnostic decision support systems (DDSS) it is crucial to have validated and precise knowledge in order to create accurate systems. Typically, medical experts are the source of this knowledge, but it is not always possible to obtain all the desired information from them. Another valuable source could be medical books or article...

Genetic variations contribute to septic shock mortality. To discover a novel locus, we performed in vitro genome-wide association studies (GWAS) and further tested the result in a cohort of septic shock patients. Two in vitro GWAS using a quantitative trait locus analysis of stimulated IL-6 production in lymphoblastoid cells from 60 individuals of...

The delineation of logical definitions for each class in an ontology and the consistent application of these definitions to the assignment of instances to classes are important criteria for ontology evaluation. If ontologies are specified with property-based restrictions on class membership, then such consistency can be checked automatically. If no...

Unbiased identification of organisms by PCR reactions using universal primers followed by DNA sequencing assumes positive amplification. We used six universal loci spanning 48 plant species and quantified the bias at each step of the identification process from end point PCR to next-generation sequencing. End point amplification was significantly d...

Two distinct trends are emerging with respect to how data is shared, collected, and analyzed within the bioinformatics community. First, Linked Data, exposed as SPARQL endpoints, promises to make data easier to collect and integrate by moving towards the harmonization of data syntax, descriptive vocabularies, and identifiers, as well as providing a...

Identification of the determinants of pathogen reservoir potential is central to understand disease emergence. It has been proposed that host lifespan is one such determinant: short-lived hosts will invest less in costly defenses against pathogens, so that they will be more susceptible to infection, more competent as sources of infection and/or wil...

Scientific workflows are formal representations of the sequence of steps in a scientific methodology. Their use is growing due to the necessity of reproducible research. Workflows can be shared and reused, in whole or in part; however, workflow repositories, such as myExperiment, do not facilitate the discovery of sub-workflows relevant to a task....

Background In recent years Galaxy has become a popular workflow management system in bioinformatics, due to its ease of installation, use and extension. The availability of Semantic Web-oriented tools in Galaxy, however, is limited. This is also the case for Semantic Web Services such as those provided by the SADI project, i.e. services that consum...

Legacy scientific workflows, and the services within them, often present scarce and unstructured (i.e. textual) descriptions. This makes it difficult to find, share and reuse them, thus dramatically reducing their value to the community. This paper presents an approach to annotating workflows and their subcomponents with ontology terms, in an attem...

Background Measurement-unit conflicts are a perennial problem in integrative research domains such as clinical meta-analysis. As multi-national collaborations grow, as new measurement instruments appear, and as Linked Open Data infrastructures become increasingly pervasive, the number of such conflicts will similarly increase. Methods We propose a...

Accurate and evidence-based diagnosis is a key step in clinical practice. High-quality diagnoses depend on several factors, including physician's training and experience. To assist physicians, medical diagnosis systems can be used, as part of clinical decision support systems (CDSS), to improve the accuracy of diagnoses, as well as inform the clini...