1. |
- Niemi, MEK, et al.
(author)
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- 2021
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swepub:Mat__t
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2. |
- Kanai, M, et al.
(author)
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- 2023
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swepub:Mat__t
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3. |
- Campbell, PJ, et al.
(author)
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Pan-cancer analysis of whole genomes
- 2020
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Journal article (peer-reviewed)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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4. |
- Ballan, M., et al.
(author)
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Nuclear physics midterm plan at Legnaro National Laboratories (LNL)
- 2023
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In: European Physical Journal Plus. - 2190-5444. ; 138:8, s. 3-26
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Journal article (peer-reviewed)abstract
- The next years will see the completion of the radioactive ion beam facility SPES (Selective Production of Exotic Species) and the upgrade of the accelerators complex at Istituto Nazionale di Fisica Nucleare – Legnaro National Laboratories (LNL) opening up new possibilities in the fields of nuclear structure, nuclear dynamics, nuclear astrophysics, and applications. The nuclear physics community has organised a workshop to discuss the new physics opportunities that will be possible in the near future by employing state-of-the-art detection systems. A detailed discussion of the outcome from the workshop is presented in this report.
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6. |
- Rajewsky, N., et al.
(author)
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LifeTime and improving European healthcare through cell-based interceptive medicine
- 2020
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In: Nature. - : Springer Nature. - 0028-0836 .- 1476-4687. ; 587:7834, s. 377-386
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Journal article (peer-reviewed)abstract
- LifeTime aims to track, understand and target human cells during the onset and progression of complex diseases and their response to therapy at single-cell resolution. This mission will be implemented through the development and integration of single-cell multi-omics and imaging, artificial intelligence and patient-derived experimental disease models during progression from health to disease. Analysis of such large molecular and clinical datasets will discover molecular mechanisms, create predictive computational models of disease progression, and reveal new drug targets and therapies. Timely detection and interception of disease embedded in an ethical and patient-centered vision will be achieved through interactions across academia, hospitals, patient-associations, health data management systems and industry. Applying this strategy to key medical challenges in cancer, neurological, infectious, chronic inflammatory and cardiovascular diseases at the single-cell level will usher in cell-based interceptive medicine in Europe over the next decade.
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8. |
- Jones, Dennis, et al.
(author)
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Evaluation of the effect of a combined chemical and thermal modification of wood though the use of bicine and tricine.
- 2022
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In: Forests. - : MDPI. - 1999-4907. ; 13:6
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Journal article (peer-reviewed)abstract
- The effects of thermal modification of wood have been well established, particularly in terms of reductions in mechanical performance. In recent years, there has been an increase in studies related to the Maillard reaction. More commonly associated with food chemistry, it involves the reaction of amines and reducing sugars during cooking procedures. This study has attempted to combine the use of amines and thermal modification, with subsequent properties investigated for the treatment of spruce (Picea abies (L.) H. Karst) and beech (Fagus sylvatica L.). In this initial study, the combined effects of chemical treatments by tricine and bicine were investigated with thermal modification. Along with some preliminary data on mechanical properties, the modifications which appeared in the wood structure were evaluated by infrared spectroscopy and biological studies according to EN113 and EN117 methodologies. The hierarchal study interpretation of FTIR suggested interactions between the bicine or tricine and the wood, which was partly supported by the analysis of volatile organic compounds (VOC), though other tests were not as conclusive. The potential of the method warrants further consideration, which will be described.
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