45 research outputs found

    A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

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    Precision oncology relies on accurate discovery and interpretation of genomic variants, enabling individualized diagnosis, prognosis and therapy selection. We found that six prominent somatic cancer variant knowledgebases were highly disparate in content, structure and supporting primary literature, impeding consensus when evaluating variants and their relevance in a clinical setting. We developed a framework for harmonizing variant interpretations to produce a meta-knowledgebase of 12,856 aggregate interpretations. We demonstrated large gains in overlap between resources across variants, diseases and drugs as a result of this harmonization. We subsequently demonstrated improved matching between a patient cohort and harmonized interpretations of potential clinical significance, observing an increase from an average of 33% per individual knowledgebase to 57% in aggregate. Our analyses illuminate the need for open, interoperable sharing of variant interpretation data. We also provide a freely available web interface () for exploring the harmonized interpretations from these six knowledgebases

    The effects of lithotripsy on adrenocortical hormones

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    In order to evaluate the effects of lithotripsy (ESWL) on adrenocortical hormone levels, we prospectively compared blood ACTH, cortisol, aldosterone and DHEA-S levels of patients treated by lithotripsy and with elective operative cholecystectomy for biliary stone disease, After surgery, blood cortisol and ACTH levels were increased significantly at 16 hours (p0.05), DHEA-S levels were elevated significantly at 16 hours after lithotripsy (p0.05). Aldosterone levels were elevated significantly in both groups (p0.05). In conclusion, ESWL induces trauma to the neuroendocrine system and the duration of the response is longer when compared with surgical trauma

    Competence Networks in the Era of CPS : Lessons Learnt in the ICES Cross-Disciplinary and Multi-domain Center

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    Cyber-Physical Systems (CPS) are evolving to become more intelligent, autonomous and collaborating, playing an important role in societal infrastructure. The amount of knowledge required in developing and managing future CPS will be unprecedented, leading to stronger needs for collaboration, competence provisioning, continuous learning and renewal of education. This is where “competence” (or learning) “networks” involving academia and industry play an important role. We elaborate and discuss needs, lessons learnt and challenges for such competence networks in the context of CPS. We draw upon our experiences gained from ICES - the KTH-industry cross-disciplinary and multi-domain competence network which in 2019 has been operational for 11 years, growing from 6 to more than 30 participating organizations. The ICES network focuses on activities to support students, industrial engineers and managers, and academic faculty, acting as a network, catalyst and competence provider directed towards these stakeholders. We elaborate challenges faced during the operation of ICES including the lack of prioritization of competence networks and education, the paradox with strong needs for competence networks but perceived lack of time, the challenges of reaching out to stakeholders, and fragmented efforts addressing competence provisioning. We finally discuss ways forward. In conclusion, we believe that the ICES type of network could be relevant in many other areas characterized by complex systems.QC 20200611</p
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