Niccolò Tempini, University of Exeter
Mon 18 Feb 2019, 15:30 - 17:00
CMB Staff Room (6th Floor)

If you have a question about this talk, please contact: Lukas Engelmann (lengelma)

Precision medicine aims at leveraging digital technology capabilities to achieve unprecedented levels of granularity of its levels of description. For instance, genome sequencing can be used to investigate relations between features of tumour cells and observed abnormalities, discover causal relations and correlations, and develop targeted therapeutic strategies. However, difficulties in managing the enormous amount of relevant data being produced by researchers around the world continue to undermine data-centred discovery and therapeutic development. This is particularly evident when looking for evidence to identify which entities should be targeted, and how (an issue typically referred to as 'actionability' of data by practitioners). This paper considers how researchers make decisions about the actionability of specific datasets and the degree to which such data can be considered to be trustworthy. To this aim, we discuss the case of COSMIC, a leading data infrastructure in cancer genomics which aggregates a large amount of data sources, ranging from literature to screen repositories and functional information about cancer at various levels of description including gene, individual mutation, methylation and drug resistance. COSMIC occupies a central position in the path towards precision oncology. It is used by many research groups both for exploratory analyses and in drug or diagnostic development pipelines, and it has a strong reputation as a reliable one-stop source of genomic evidence for clinical use. On the basis of extensive research on COSMIC curation practices carried out between 2015 and 2017, we identify and discuss the grounds on which such trustworthiness has been developed and maintained.