Evaluating and Extending the Informed Consent Ontology for Representing Permissions from the Clinical Domain.

The purpose of this study was to evaluate, revise, and extend the Informed Consent Ontology (ICO) for expressing clinical permissions, including reuse of residual clinical biospecimens and health data. This study followed a formative evaluation design and used a bottom-up modeling approach. Data were collected from the literature on US federal regulations and a study of clinical consent forms. Eleven federal regulations and fifteen permission-sentences from clinical consent forms were iteratively modeled to identify entities and their relationships, followed by community reflection and negotiation based on a series of predetermined evaluation questions. ICO included fifty-two classes and twelve object properties necessary when modeling, demonstrating appropriateness of extending ICO for the clinical domain. Twenty-six additional classes were imported into ICO from other ontologies, and twelve new classes were recommended for development. This work addresses a critical gap in formally representing permissions clinical permissions, including reuse of residual clinical biospecimens and health data. It makes missing content available to the OBO Foundry, enabling use alongside other widely-adopted biomedical ontologies. ICO serves as a machine-interpretable and interoperable tool for responsible reuse of residual clinical biospecimens and health data at scale.

Regulations and Norms for Reuse of Residual Clinical Biospecimens and Health Data.

Nurse scientists are increasingly interested in conducting secondary research using real world collections of biospecimens and health data. The purposes of this scoping review are to (a) identify federal regulations and norms that bear authority or give guidance over reuse of residual clinical biospecimens and health data, (b) summarize domain experts' interpretations of permissions of such reuse, and (c) summarize key issues for interpreting regulations and norms. Final analysis included 25 manuscripts and 23 regulations and norms. This review illustrates contextual complexity for reusing residual clinical biospecimens and health data, and explores issues such as privacy, confidentiality, and deriving genetic information from biospecimens. Inconsistencies make it difficult to interpret, which regulations or norms apply, or if applicable regulations or norms are congruent. Tools are necessary to support consistent, expert-informed consent processes and downstream reuse of residual clinical biospecimens and health data by nurse scientists.

Lessons Learned for Identifying and Annotating Permissions in Clinical Consent Forms.

BACKGROUND: The lack of machine-interpretable representations of consent permissions precludes development of tools that act upon permissions across information ecosystems, at scale. OBJECTIVES: To report the process, results, and lessons learned while annotating permissions in clinical consent forms. METHODS: We conducted a retrospective analysis of clinical consent forms. We developed an annotation scheme following the MAMA (Model-Annotate-Model-Annotate) cycle and evaluated interannotator agreement (IAA) using observed agreement (A o), weighted kappa (κw ), and Krippendorff's α. RESULTS: The final dataset included 6,399 sentences from 134 clinical consent forms. Complete agreement was achieved for 5,871 sentences, including 211 positively identified and 5,660 negatively identified as permission-sentences across all three annotators (A o = 0.944, Krippendorff's α = 0.599). These values reflect moderate to substantial IAA. Although permission-sentences contain a set of common words and structure, disagreements between annotators are largely explained by lexical variability and ambiguity in sentence meaning. CONCLUSION: Our findings point to the complexity of identifying permission-sentences within the clinical consent forms. We present our results in light of lessons learned, which may serve as a launching point for developing tools for automated permission extraction.

Fully automated sequence alignment methods are comparable to, and much faster than, traditional methods in large data sets: an example with hepatitis B virus.

Aligning sequences for phylogenetic analysis (multiple sequence alignment; MSA) is an important, but increasingly computationally expensive step with the recent surge in DNA sequence data. Much of this sequence data is publicly available, but can be extremely fragmentary (i.e., a combination of full genomes and genomic fragments), which can compound the computational issues related to MSA. Traditionally, alignments are produced with automated algorithms and then checked and/or corrected "by eye" prior to phylogenetic inference. However, this manual curation is inefficient at the data scales required of modern phylogenetics and results in alignments that are not reproducible. Recently, methods have been developed for fully automating alignments of large data sets, but it is unclear if these methods produce alignments that result in compatible phylogenies when compared to more traditional alignment approaches that combined automated and manual methods. Here we use approximately 33,000 publicly available sequences from the hepatitis B virus (HBV), a globally distributed and rapidly evolving virus, to compare different alignment approaches. Using one data set comprised exclusively of whole genomes and a second that also included sequence fragments, we compared three MSA methods: (1) a purely automated approach using traditional software, (2) an automated approach including by eye manual editing, and (3) more recent fully automated approaches. To understand how these methods affect phylogenetic results, we compared resulting tree topologies based on these different alignment methods using multiple metrics. We further determined if the monophyly of existing HBV genotypes was supported in phylogenies estimated from each alignment type and under different statistical support thresholds. Traditional and fully automated alignments produced similar HBV phylogenies. Although there was variability between branch support thresholds, allowing lower support thresholds tended to result in more differences among trees. Therefore, differences between the trees could be best explained by phylogenetic uncertainty unrelated to the MSA method used. Nevertheless, automated alignment approaches did not require human intervention and were therefore considerably less time-intensive than traditional approaches. Because of this, we conclude that fully automated algorithms for MSA are fully compatible with older methods even in extremely difficult to align data sets. Additionally, we found that most HBV diagnostic genotypes did not correspond to evolutionarily-sound groups, regardless of alignment type and support threshold. This suggests there may be errors in genotype classification in the database or that HBV genotypes may need a revision.

Observing vegetation phenology through social media.

The widespread use of social media has created a valuable but underused source of data for the environmental sciences. We demonstrate the potential for images posted to the website Twitter to capture variability in vegetation phenology across United States National Parks. We process a subset of images posted to Twitter within eight U.S. National Parks, with the aim of understanding the amount of green vegetation in each image. Analysis of the relative greenness of the images show statistically significant seasonal cycles across most National Parks at the 95% confidence level, consistent with springtime green-up and fall senescence. Additionally, these social media-derived greenness indices correlate with monthly mean satellite NDVI (r = 0.62), reinforcing the potential value these data could provide in constraining models and observing regions with limited high quality scientific monitoring.

Site-based data curation based on hot spring geobiology.

Site-Based Data Curation (SBDC) is an approach to managing research data that prioritizes sharing and reuse of data collected at scientifically significant sites. The SBDC framework is based on geobiology research at natural hot spring sites in Yellowstone National Park as an exemplar case of high value field data in contemporary, cross-disciplinary earth systems science. Through stakeholder analysis and investigation of data artifacts, we determined that meaningful and valid reuse of digital hot spring data requires systematic documentation of sampling processes and particular contextual information about the site of data collection. We propose a Minimum Information Framework for recording the necessary metadata on sampling locations, with anchor measurements and description of the hot spring vent distinct from the outflow system, and multi-scale field photography to capture vital information about hot spring structures. The SBDC framework can serve as a global model for the collection and description of hot spring systems field data that can be readily adapted for application to the curation of data from other kinds scientifically significant sites.