Background and purpose Continuous improvement of health and healthcare system is hampered by inefficient processes of generating new evidence, particularly in the case of rare diseases and paediatrics. Currently, most evidence is generated through specific research projects, which typically require extra encounters with patients, are costly and entail long delays between the recognition of specific needs in healthcare and the generation of necessary evidence to address those needs. The Swiss Personalised Health Network (SPHN) aims to improve the use of data obtained during routine healthcare encounters by harmonizing data across Switzerland and facilitating accessibility for research. The project “Harmonising the collection of health-related data and biospecimens in paediatric hospitals throughout Switzerland (SwissPedData)” was an infrastructure development project funded by the SPHN, which aimed to identify and describe available data on child health in Switzerland and to agree on a standardised core dataset for electronic health records across all paediatric teaching hospitals. Here, we describe the results of a two-day symposium that aimed to summarise what had been achieved in the SwissPedData project, to put it in an international context, and to discuss the next steps for a sustainable future. The target audience included clinicians and researchers who produce and use health-related data on children in Switzerland. Key highlights The symposium consisted of state-of-the-art lectures from national and international keynote speakers, workshops and plenary discussions. This manuscript summarises the talks and discussions in four sections: (I) a description of the Swiss Personalized Health Network and the results of the SwissPedData project; (II) examples of similar initiatives from other countries; (III) an overview of existing health-related datasets and projects in Switzerland; and (IV) a summary of the lessons learned and future prospective from workshops and plenary discussions. Implications Streamlined processes linking initial collection of information during routine healthcare encounters, standardised recording of this information in electronic health records and fast accessibility for research are essential to accelerate research in child health and make it affordable. Ongoing projects prove that this is feasible in Switzerland and elsewhere. International collaboration is vital to success. The next steps include the implementation of the SwissPedData core dataset in the clinical information systems of Swiss hospitals, the use of this data to address priority research questions, and the acquisition of sustainable funding to support a slim central infrastructure and local support in each hospital. This will lay the foundation for a national paediatric learning health system in Switzerland.
Because plants do not possess a proper germline, deleterious somatic mutations can beThe copyright holder for this preprint (which was . http://dx.doi.org/10.1101/149203 doi: bioRxiv preprint first posted online Jun. 13, 2017; 3 the Lausanne University campus, on their way to conquer Italy. At the time of sample harvest 49 for our study, the dividing apical meristems of this magnificent tree (Figure 1 not peer-reviewed) is the author/funder. All rights reserved. No reuse allowed without permission.The copyright holder for this preprint (which was . http://dx.doi.org/10.1101/149203 doi: bioRxiv preprint first posted online Jun. 13, 2017; 4 conservative estimate, we are likely to have missed no more than 18 further such sites (17 75 candidates and 1 false negative, see Supplementary Methods). 76All 17 confirmed SNVs were heterozygous, as expected for novel somatic mutations. Table 2). The functional impact of exchanging a positively charged arginine with a non-82 charged and smaller glycine residue is unknown and deserves further analysis. 83Having confidently established 17 SNVs, we then assessed their occurrence 84 throughout the tree. We used Sanger sequencing to genotype the remaining 24 terminal 85 branches sampled from other parts of the tree and checked for the presence of each SNV. Napoleon Oak may be difficult to reconstruct, our SNV analysis generated a nested set of 92 lineages supported by derived mutations, analogous to a phylogenetic tree. 93The spontaneous mutation rate in plants has been estimated to range from 5 X 10 -9 to 94 30 X 10 -9 substitutions/site/generation, based on mutations accumulated during divergence 95 between monocots and dicots 8 . Values for mutation accumulation lines of Arabidopsis 96 thaliana maintained in the laboratory range between 7.0 and 7.4 X 10 -9 , which corresponds to 97 ~1 mutation/genome/generation 9,10 . Arabidopsis is an annual plant that reaches 98 approximately 30 cm in height before producing seeds. In contrast, the physical distance 99 traced along branches between the terminal branches we sequenced for the Napoleon Oak is 100 not peer-reviewed) is the author/funder. All rights reserved. No reuse allowed without permission.The copyright holder for this preprint (which was . http://dx.doi.org/10.1101/149203 doi: bioRxiv preprint first posted online Jun. 13, 2017; 5 about 40 m (Figure 1 Our original hypothesis is thus not supported by the data and another mechanism has to be 110 invoked.). Assuming similar cell sizes between oak and Arabidopsis, 111Classical studies of shoot apical meristem organization have reported that the most 112 distal zone has a significantly lower rate of cell division than more basal regions of the apex, 113 and might therefore be relatively protected from replication errors 12,13 . In a recent study that It thus seems reasonable to suppose that the growth pattern described in Arabidopsis and 126 not peer-reviewed) is the author/funder. All rights reserved. No reuse allowed without permission.The copyright holder for thi...
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