15 research outputs found

    The ethics of genomic medicine:Redefining values and norms in the UK and France

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    International audienceThis paper presents a joint position of the UK-France Genomics and Ethics Network (UK-FR GENE), which has been set up to reflect on the ethical and social issues arising from the integration of genomics into routine clinical care in the UK and France. In 2018, the two countries announced enhanced cooperation between their national strategies, Genomics England and Plan France MĂ©decine GĂ©nomique 2025, which offers a unique opportunity to study the impact of genomic medicine and relevant policies in different national contexts. The paper provides first insights into the two national strategies and the norms, values and principles at stake in each country. It discusses the impact of genomic medicine on established relationships and existing regulations, and examines its effects on solidarity and trust in public healthcare systems. Finally, it uses the social contract as an analytical lens to explore and redefine the balance between individual rights and collective duties in the context of genomic medicine. This paper leads to three key observations: (1) despite each country's strategy being at a different stage of implementation, the two countries face similar ethical issues; (2) each country tries to solve these issues by (re-)defining individual rights and collective duties in its own way; (3) the social contract presents a useful tool to analyse the ways the UK and France address the ethical challenges raised by genomics. This overview lays the groundwork for future in-depth comparison, and drive collaborative research, between the UK and France

    Ten steps to get started in Genome Assembly and Annotation

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    As a part of the ELIXIR-EXCELERATE efforts in capacity building, we present here 10 steps to facilitate researchers getting started in genome assembly and genome annotation. The guidelines given are broadly applicable, intended to be stable over time, and cover all aspects from start to finish of a general assembly and annotation project. Intrinsic properties of genomes are discussed, as is the importance of using high quality DNA. Different sequencing technologies and generally applicable workflows for genome assembly are also detailed. We cover structural and functional annotation and encourage readers to also annotate transposable elements, something that is often omitted from annotation workflows. The importance of data management is stressed, and we give advice on where to submit data and how to make your results Findable, Accessible, Interoperable, and Reusable (FAIR).ELIXIR-EXCELERATE is funded by the European Commission within the Research Infrastructures Programme of Horizon 2020 [676559]
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