| 1. |
- Berndt, Sonja, I, et al.
(author)
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Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes
- 2022
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In: Leukemia. - : Springer Nature. - 0887-6924 .- 1476-5551. ; 36:12, s. 2835-2844
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Journal article (peer-reviewed)abstract
- Lymphoma risk is elevated for relatives with common non-Hodgkin lymphoma (NHL) subtypes, suggesting shared genetic susceptibility across subtypes. To evaluate the extent of mutual heritability among NHL subtypes and discover novel loci shared among subtypes, we analyzed data from eight genome-wide association studies within the InterLymph Consortium, including 10,629 cases and 9505 controls. We utilized Association analysis based on SubSETs (ASSET) to discover loci for subsets of NHL subtypes and evaluated shared heritability across the genome using Genome-wide Complex Trait Analysis (GCTA) and polygenic risk scores. We discovered 17 genome-wide significant loci (P < 5 × 10−8) for subsets of NHL subtypes, including a novel locus at 10q23.33 (HHEX) (P = 3.27 × 10−9). Most subset associations were driven primarily by only one subtype. Genome-wide genetic correlations between pairs of subtypes varied broadly from 0.20 to 0.86, suggesting substantial heterogeneity in the extent of shared heritability among subtypes. Polygenic risk score analyses of established loci for different lymphoid malignancies identified strong associations with some NHL subtypes (P < 5 × 10−8), but weak or null associations with others. Although our analyses suggest partially shared heritability and biological pathways, they reveal substantial heterogeneity among NHL subtypes with each having its own distinct germline genetic architecture.
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| 2. |
- Deans, Andrew R, et al.
(author)
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Finding Our Way through Phenotypes.
- 2015
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In: PLoS Biology. - : Public Library of Science (PLoS). - 1545-7885. ; 13:1
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Journal article (peer-reviewed)abstract
- Despite a large and multifaceted effort to understand the vast landscape of phenotypic data, their current form inhibits productive data analysis. The lack of a community-wide, consensus-based, human- and machine-interpretable language for describing phenotypes and their genomic and environmental contexts is perhaps the most pressing scientific bottleneck to integration across many key fields in biology, including genomics, systems biology, development, medicine, evolution, ecology, and systematics. Here we survey the current phenomics landscape, including data resources and handling, and the progress that has been made to accurately capture relevant data descriptions for phenotypes. We present an example of the kind of integration across domains that computable phenotypes would enable, and we call upon the broader biology community, publishers, and relevant funding agencies to support efforts to surmount today's data barriers and facilitate analytical reproducibility.
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| 3. |
- Pettorelli, Nathalie, et al.
(author)
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Time to integrate global climate change and biodiversity science-policy agendas
- 2021
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In: Journal of Applied Ecology. - : Wiley. - 0021-8901 .- 1365-2664. ; 58:11, s. 2384-2393
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Journal article (peer-reviewed)abstract
- There is an increasing recognition that, although the climate change and biodiversity crises are fundamentally connected, they have been primarily addressed independently and a more integrated global approach is essential to tackle these two global challenges. Nature-based Solutions (NbS) are hailed as a pathway for promoting synergies between the climate change and biodiversity agendas. There are, however, uncertainties and difficulties associated with the implementation of NbS, while the evidence regarding their benefits for biodiversity remains limited. We identify five key research areas where incomplete or poor information hinders the development of integrated biodiversity and climate solutions. These relate to refining our understanding of how climate change mitigation and adaptation approaches benefit biodiversity conservation; enhancing our ability to track and predict ecosystems on the move and/or facing collapse; improving our capacity to predict the impacts of climate change on the effectiveness of NbS; developing solutions that match the temporal, spatial and functional scale of the challenges; and developing a comprehensive and practical framework for assessing, and mitigating against, the risks posed by the implementation of NbS. Policy implications. The Conference of the Parties (COP) for the United Nations Framework Convention on Climate Change (COP26) and the Convention on Biological Diversity (COP15) present a clear policy window for developing coherent policy frameworks that align targets across the nexus of biodiversity and climate change. This window should (a) address the substantial and chronic underfunding of global biodiversity conservation, (b) remove financial incentives that negatively impact biodiversity and/or climate change, (c) develop higher levels of integration between the biodiversity and climate change agendas, (d) agree on a monitoring framework that enables the standardised quantification and comparison of biodiversity gains associated with NbS across ecosystems and over time and (e) rethink environmental legislation to better support biodiversity conservation in times of rapid climatic change.
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