INB/ ELIXIR-ES: El papel de las RIs en medicina personalizada

ELIXIR es una organización intergubernamental que proporciona recursos como bases de datos, software de entrenamiento, estándares de datos y distintos recursos informáticos con el objetivo de coordinar los recursos de toda Europa y formar una única infraestructuta. Conecta los centros nacionales de bioinformática, European Molecular Biology Laboratory (EMBL) y el European Bioinformatics Institute (EBI) en el sistema europeo para datos para la investigación.N

The FAIR Cookbook - the essential resource for and by FAIR doers

The notion that data should be Findable, Accessible, Interoperable and Reusable, according to the FAIR Principles, has become a global norm for good data stewardship and a prerequisite for reproducibility. Nowadays, FAIR guides data policy actions and professional practices in the public and private sectors. Despite such global endorsements, however, the FAIR Principles are aspirational, remaining elusive at best, and intimidating at worst. To address the lack of practical guidance, and help with capability gaps, we developed the FAIR Cookbook, an open, online resource of hands-on recipes for “FAIR doers” in the Life Sciences. Created by researchers and data managers professionals in academia, (bio)pharmaceutical companies and information service industries, the FAIR Cookbook covers the key steps in a FAIRification journey, the levels and indicators of FAIRness, the maturity model, the technologies, the tools and the standards available, as well as the skills required, and the challenges to achieve and improve data FAIRness. Part of the ELIXIR ecosystem, and recommended by funders, the FAIR Cookbook is open to contributions of new recipes.We thank all book dash participants and recipe authors, as well as the FAIRplus fellows, all partners, and the members of the FAIRplus Scientific Advisory Board, and the management team. In particular we acknowledge a number of colleagues for their role in the FAIRplus project, in particular: Ebitsam Alharbi (0000-0002-3887-3857), Oya Deniz Beyan (0000-0001-7611-3501), Ola Engkvist (0000-0003-4970-6461), Laura Furlong (0000-0002-9383-528X), Carole Goble (0000-0003-1219-2137), Mark Ibberson (0000-0003-3152-5670), Manfred Kohler, Nick Lynch (0000-0002-8997-5298), Scott Lusher (0000-0003-2401-4223), Jean-Marc Neefs, George Papadotas, Manuela Pruess (0000-0002-6857-5543), Ratnesh Sahay, Rudi Verbeeck (0000-0001-5445-6095), Bryn Williams-Jones, and Gesa Witt (0000-0003-2344-706X). This work and the authors were primarily funded by FAIRplus (IMI 802750). PRS and SAS also acknowledge contributions from the following grants (the FAIR Cookbook is also embedded in or connected to): ELIXIR Interoperability Platform, EOSC-Life (H2020-EU 824087), FAIRsharing (Wellcome 212930/Z/18/Z), NIH CFDE Coordinating Center (NIH Common Fund OT3OD025459-01), Precision Toxicology (H2020-EU 965406), UKRI DASH grant (MR/V038966/1), BY-COVID (Horizon-EU 101046203), AgroServ (Horizon-EU 101058020).Peer Reviewed"Article signat per 33 autors/es: Philippe Rocca-Serra, Wei Gu, Vassilios Ioannidis, Tooba Abbassi-Daloii, Salvador Capella-Gutierrez, Ishwar Chandramouliswaran, Andrea Splendiani, Tony Burdett, Robert T. Giessmann, David Henderson, Dominique Batista, Ibrahim Emam, Yojana Gadiya, Lucas Giovanni, Egon Willighagen, Chris Evelo, Alasdair J. G. Gray, Philip Gribbon, Nick Juty, Danielle Welter, Karsten Quast, Paul Peeters, Tom Plasterer, Colin Wood, Eelke van der Horst, Dorothy Reilly, Herman van Vlijmen, Serena Scollen, Allyson Lister, Milo Thurston, Ramon Granell, the FAIR Cookbook Contributors & Susanna-Assunta Sansone"Postprint (published version

Lessons Learned: Recommendations for Establishing Critical Periodic Scientific Benchmarking

The dependence of life scientists on software has steadily grown in recent years. For many tasks, researchers have to decide which of the available bioinformatics software are more suitable for their specific needs. Additionally researchers should be able to objectively select the software that provides the highest accuracy, the best efficiency and the highest level of reproducibility when integrated in their research projects. Critical benchmarking of bioinformatics methods, tools and web services is therefore an essential community service, as well as a critical component of reproducibility efforts. Unbiased and objective evaluations are challenging to set up and can only be effective when built and implemented around community driven efforts, as demonstrated by the many ongoing community challenges in bioinformatics that followed the success of CASP. Community challenges bring the combined benefits of intense collaboration, transparency and standard harmonization. Only open systems for the continuous evaluation of methods offer a perfect complement to community challenges, offering to larger communities of users that could extend far beyond the community of developers, a window to the developments status that they can use for their specific projects. We understand by continuous evaluation systems as those services which are always available and periodically update their data and/or metrics according to a predefined schedule keeping in mind that the performance has to be always seen in terms of each research domain. We argue here that technology is now mature to bring community driven benchmarking efforts to a higher level that should allow effective interoperability of benchmarks across related methods. New technological developments allow overcoming the limitations of the first experiences on online benchmarking e.g. EVA. We therefore describe OpenEBench, a novel infra-structure designed to establish a continuous automated benchmarking system for bioinformatics methods, tools and web services. OpenEBench is being developed so as to cater for the needs of the bioinformatics community, especially software developers who need an objective and quantitative way to inform their decisions as well as the larger community of end-users, in their search for unbiased and up-to-date evaluation of bioinformatics methods. As such OpenEBench should soon become a central place for bioinformatics software developers, community-driven benchmarking initiatives, researchers using bioinformatics methods, and funders interested in the result of methods evaluation.Preprin

The Quest for Orthologs orthology benchmark service in 2022

The Orthology Benchmark Service (https://orthology.benchmarkservice.org) is the gold standard for orthology inference evaluation, supported and maintained by the Quest for Orthologs consortium. It is an essential resource to compare existing and new methods of orthology inference (the bedrock for many comparative genomics and phylogenetic analysis) over a standard dataset and through common procedures. The Quest for Orthologs Consortium is dedicated to maintaining the resource up to date, through regular updates of the Reference Proteomes and increasingly accessible data through the OpenEBench platform. For this update, we have added a new benchmark based on curated orthology assertion from the Vertebrate Gene Nomenclature Committee, and provided an example meta-analysis of the public predictions present on the platform.European Molecular Biology Laboratory (EMBL) (core funds to D.J. and M.J.M.); National Institutes of Health [U24HG007822 to D.J. and M.J.M., 75N93019C00077 to D.S.R.]; National Human Genome Research Institute (NHGRI) [U24HG003345 to T.E.M.J, B.Y., E.A.B.]; JSPS KAKENHI [16H06279, 19H05688 to W.I.]; JST CREST [JPMJCR19S2 to W.I.]; MEXT [JPMXD1521474594 to W.I.]; Horizon 2020 [676559 to S.C.-G., 637765] (to D.M.E.), ELIXIR (to S.C.-G.); Wellcome Grant [208349/Z/17/Z to E.A.B.]; National Science Foundation (USA) [1917302 to P.D.T.]; Wellcome Trust [WT-218288, WT-212929 to D.S.R.]; Service and Infrastructure grant from the Swiss Institute of Bioinformatics, Swiss National Science Foundation [186397, 205085 to C.D.]. Funding for open access charge: Swiss National Science Foundation [205085].Peer Reviewed"Article signat per 31 autors/es: Yannis Nevers, Tamsin E M Jones, Dushyanth Jyothi, Bethan Yates, Meritxell Ferret, Laura Portell-Silva, Laia Codo, Salvatore Cosentino, Marina Marcet-Houben, Anna Vlasova, Laetitia Poidevin, Arnaud Kress, Mark Hickman, Emma Persson, Ivana Piližota, Cristina Guijarro-Clarke, the OpenEBench team the Quest for Orthologs Consortium , Wataru Iwasaki, Odile Lecompte, Erik Sonnhammer, David S Roos, Toni Gabaldón, David Thybert, Paul D Thomas, Yanhui Hu, David M Emms, Elspeth Bruford, Salvador Capella-Gutierrez, Maria J Martin, Christophe Dessimoz, Adrian Altenhoff"Postprint (published version

Recording provenance of workflow runs with RO-Crate

Recording the provenance of scientific computation results is key to the support of traceability, reproducibility and quality assessment of data products.Several data models have been explored to address this need, providing representations of workflow plans and their executions as well as means of packaging the resulting information for archiving and sharing.However, existing approaches tend to lack interoperable adoption across workflow management systems.In this work we present Workflow Run RO-Crate, an extension of RO-Crate (Research Object Crate) and Schema.org to capture the provenance of the execution of computational workflows at different levels of granularity and bundle together all their associated objects (inputs, outputs, code, etc.).The model is supported by a diverse, open community that runs regular meetings, discussing development, maintenance and adoption aspects.Workflow Run RO-Crate is already implemented by several workflow management systems, allowing interoperable comparisons between workflow runs from heterogeneous systems.We describe the model, its alignment to standards such as W3C PROV, and its implementation in six workflow systems.Finally, we illustrate the application of Workflow Run RO-Crate in two use cases of machine learning in the digital image analysis domain.A corresponding RO-Crate for this article is at https://w3id.org/ro/doi/10.5281/zenodo.1036898

Towards FAIR principles for research software

The FAIR Guiding Principles, published in 2016, aim to improve the findability, accessibility, interoperability and reusability of digital research objects for both humans and machines. Until now the FAIR principles have been mostly applied to research data. The ideas behind these principles are, however, also directly relevant to research software. Hence there is a distinct need to explore how the FAIR principles can be applied to software. In this work, we aim to summarize the current status of the debate around FAIR and software, as basis for the development of community-agreed principles for FAIR research software in the future. We discuss what makes software different from data with regard to the application of the FAIR principles, and which desired characteristics of research software go beyond FAIR. Then we present an analysis of where the existing principles can directly be applied to software, where they need to be adapted or reinterpreted, and where the definition of additional principles is required. Here interoperability has proven to be the most challenging principle, calling for particular attention in future discussions. Finally, we outline next steps on the way towards definite FAIR principles for research software

Autogenic Training Relaxation Helping Postpartum Mothers to Achieve Successful Breastfeeding on Early Lactation Period

Introduction: The numbers of breastfeeding failures are mostly caused by mothers` disbelief to themselves. One method that can be done to overcome these problems in accordance with the self-care nursing theory is the autogenic training relaxation. This method teaches mothers to be self-sufficient in building a positive intention and motivation to help the process of breastfeeding. This study aimed to examine the influence of autogenic training relaxation to the effectiveness of breastfeeding and the enhancement of breast milk volume on maternal postpartum. Method: By using an experimental posttest only-non equivalent control group design, 26 samples were taken based on the criteria and divided into two groups by matching technuiqe. autogenic training was given through MP3 Player for 3 weeks. Post-test observation conducted on the third week by home visit. Via Christi Breastfeeding Assessment Tool Jan Riordan modifications used to assess the effectiveness of breastfeeding, and to measure the milk ejection volume, used weighing test using electronic baby scales. Data were analyzed using one-tailed independent t test with α ≤ 0.05. Result: The analysis showed that mothers who did autogenic training relaxation could breastfeed more effectively and had greater average volume of milk ejection than the control group (p = 0.000 and p = 0.001). Discussion: It can be concluded that autogenic relaxation training techniques affect the effectiveness of breastfeeding and breast milk volume. These results can be considered that autogenic training as an intervention in program of support for breastfeeding mothers

The ELIXIR Human Copy Number Variations Community:building bioinformatics infrastructure for research

Copy number variations (CNVs) are major causative contributors both in the genesis of genetic diseases and human neoplasias. While 'High-Throughput' sequencing technologies are increasingly becoming the primary choice for genomic screening analysis, their ability to efficiently detect CNVs is still heterogeneous and remains to be developed. The aim of this white paper is to provide a guiding framework for the future contributions of ELIXIR's recently established h uman CNV Community, with implications beyond human disease diagnostics and population genomics. This white paper is the direct result of a strategy meeting that took place in September 2018 in Hinxton (UK) and involved representatives of 11 ELIXIR Nodes. The meeting led to the definition of priority objectives and tasks, to address a wide range of CNV-related challenges ranging from detection and interpretation to sharing and training. Here, we provide suggestions on how to align these tasks within the ELIXIR Platforms strategy, and on how to frame the activities of this new ELIXIR Community in the international context

An intrinsically disordered proteins community for ELIXIR.

Intrinsically disordered proteins (IDPs) and intrinsically disordered regions (IDRs) are now recognised as major determinants in cellular regulation. This white paper presents a roadmap for future e-infrastructure developments in the field of IDP research within the ELIXIR framework. The goal of these developments is to drive the creation of high-quality tools and resources to support the identification, analysis and functional characterisation of IDPs. The roadmap is the result of a workshop titled "An intrinsically disordered protein user community proposal for ELIXIR" held at the University of Padua. The workshop, and further consultation with the members of the wider IDP community, identified the key priority areas for the roadmap including the development of standards for data annotation, storage and dissemination; integration of IDP data into the ELIXIR Core Data Resources; and the creation of benchmarking criteria for IDP-related software. Here, we discuss these areas of priority, how they can be implemented in cooperation with the ELIXIR platforms, and their connections to existing ELIXIR Communities and international consortia. The article provides a preliminary blueprint for an IDP Community in ELIXIR and is an appeal to identify and involve new stakeholders