Annotation and curation of human genomic variations: an ELIXIR Implementation Study
Rattachement africain : gb, ch, it, fi. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Background: ELIXIR is an intergovernmental organization, primarily based around European countries, established to host life science resources, including databases, software tools, training material and cloud storage for the scientific community under a single infrastructure. Methods: In 2018, ELIXIR commissioned an international survey on the usage of databases and tools for annotating and curating human genomic variants with the aim of improving ELIXIR resources. The 27-question survey was made available on-line between September and December 2018 to rank the importance and explore the usage and limitations of a wide range of databases and tools for annotating and curating human genomic variants, including resources specific for next generation sequencing, research into mitochondria and protein structure. Results: Eighteen countries participated in the survey and a total of 92 questionnaires were collected and analysed. Most respondents (89%, n=82) were from academia or a research environment. 51% (n=47) of respondents gave answers on behalf of a small research group (<10 people), 33% (n=30) in relation to individual work and 16% (n=15) on behalf of a large group (>10 people). The survey showed that the scientific community considers several resources supported by ELIXIR crucial or very important. Moreover, it showed that the work done by ELIXIR is greatly valued. In particular, most respondents acknowledged the importance of key features and benefits promoted by ELIXIR, such as the verified scientific quality and maintenance of ELIXIR-approved resources. Conclusions ELIXIR is a “one-stop-shop” that helps researchers identify the most suitable, robust and well-maintained bioinformatics resources for delivering their research tasks.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Annotation and curation of human genomic variations: an ELIXIR Implementation Study
- Date Crossref
- 08/10/2020
- Éditeur
- F1000 Research Ltd
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
-
Imperial College London Centre for Integrative Systems Biology and Bioinformatics pays non établi dans la noticeUniversité ou école supérieure
-
SIB Swiss Institute of Bioinformatics pays non établi dans la noticeOrganisation à but non lucratif
-
University of Bari Aldo Moro Department of Biosciences pays non établi dans la noticeUniversité ou école supérieure
-
CSC - IT Center for Science (Finland) pays non établi dans la noticeEntreprise
-
Finnish Institute for Health and Welfare pays non établi dans la noticeOrganisme public
-
European Bioinformatics Institute pays non établi dans la noticeStructure de recherche
-
Clinical Bioinformatics pays non établi dans la noticeÉtablissement de santé
-
European Molecular Biology Laboratory pays non établi dans la noticeStructure de recherche
Centre for Integrative Systems Biology and Bioinformatics — Imperial College London, SIB Swiss Institute of Bioinformatics et Department of Biosciences — University of Bari Aldo Moro, avec 5 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.