Research data management challenges in citizen science projects and recommendations for library support services. A scoping review and case study.

Citizen science (CS) projects are part of a new era of data aggregation and harmonisation that facilitates interconnections between different datasets. Increasing the value and reuse of CS data has received growing attention with the appearance of the FAIR principles and systematic research data management (RDM) practises, which are often promoted by university libraries. However, RDM initiatives in CS appear diversified and if CS have special needs in terms of RDM is unclear. Therefore, the aim of this article is firstly to identify RDM challenges for CS projects and secondly, to discuss how university libraries may support any such challenges. A scoping review and a case study of Danish CS projects were performed to identify RDM challenges. 48 articles were selected for data extraction. Four academic project leaders were interviewed about RDM practices in their CS projects. Challenges and recommendations identified in the review and case study are often not specific for CS. However, finding CS data, engaging specific populations, attributing volunteers and handling sensitive data including health data are some of the challenges requiring special attention by CS project managers. Scientific requirements or national practices do not always encompass the nature of CS projects. Based on the identified challenges, it is recommended that university libraries focus their services on 1) identifying legal and ethical issues that the project managers should be aware of in their projects, 2) elaborating these issues in a Terms of Participation that also specifies data handling and sharing to the citizen scientist, and 3) motivating the project manager to good data handling practises. Adhering to the FAIR principles and good RDM practices in CS projects will continuously secure contextualisation and data quality. High data quality increases the value and reuse of the data and, therefore, the empowerment of the citizen scientists

Scleroderma and Augmentation Mammoplasty: A Causal Relationship?

BACKGROUND: The studies implicating a causal relationship between silicone and scleroderma, other autoimmune disease, and fibromyalgia-like symptoms have been largely descriptive with absence of appropriate controls and no consideration of potential confounders. This case control study of augmentation mammoplasty and scleroderma represents an attempt to answer these deficiencies. AIMS: To compare the frequency and temporal relationship of augmentation mammoplasty in interviewed and deceased cases and interviewed controls. To determine the frequencies of exposure to non-augmentation mammoplasty silicone, and to determine the frequencies of mastectomy and breast lumpectomy in interviewed cases and controls. METHODS: Scleroderma cases and age-stratified general practice controls were interviewed using a prepilotted telephone questionnaire. Self-reported date/s of augmentation mammoplasty were ascertained, as were dates of onset of first and second scleroderma symptom/s and scleroderma diagnosis, where relevant. Comparison of socioeconomically adjusted rates was expressed in terms of rate ratios. RESULTS: Augmentation mammoplasty rates were comparable between interviewed cases and controls. No augmentation mammoplasty procedures were documented in deceased scleroderma patients' medical records. Rates of exposure to non-mammoplasty silicone, mastectomy and breast lumpectomy were comparable in interviewed cases and controls. CONCLUSIONS: This study failed to demonstrate an association between silicone breast implantation and the subsequent development of scleroderma, to a relative risk level as low as 4.5 with 90% power

Sequencing and de novo assembly of 150 genomes from Denmark as a population reference

Hundreds of thousands of human genomes are now being sequenced to characterize genetic variation and use this information to augment association mapping studies of complex disorders and other phenotypic traits. Genetic variation is identified mainly by mapping short reads to the reference genome or by performing local assembly. However, these approaches are biased against discovery of structural variants and variation in the more complex parts of the genome. Hence, large-scale de novo assembly is needed. Here we show that it is possible to construct excellent de novo assemblies from high-coverage sequencing with mate-pair libraries extending up to 20 kilobases. We report de novo assemblies of 150 individuals (50 trios) from the GenomeDenmark project. The quality of these assemblies is similar to those obtained using the more expensive long-read technology. We use the assemblies to identify a rich set of structural variants including many novel insertions and demonstrate how this variant catalogue enables further deciphering of known association mapping signals. We leverage the assemblies to provide 100 completely resolved major histocompatibility complex haplotypes and to resolve major parts of the Y chromosome. Our study provides a regional reference genome that we expect will improve the power of future association mapping studies and hence pave the way for precision medicine initiatives, which now are being launched in many countries including Denmark