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| 2. |
- Weinstein, John N., et al.
(författare)
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The cancer genome atlas pan-cancer analysis project
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:10, s. 1113-1120
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Forskningsöversikt (refereegranskat)abstract
- The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile. © 2013 Nature America, Inc. All rights reserved.
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| 3. |
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| 4. |
- Fresard, Laure, et al.
(författare)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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Tidskriftsartikel (refereegranskat)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
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| 5. |
- Goldman, Aaron James, et al.
(författare)
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Borders, Boundaries, Backdrops : An Introduction to the Special Issue on Christianity and Nationalism
- 2022
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Ingår i: Svensk Teologisk Kvartalskrift. - : Svensk Teologisk Kvartalskrift. - 0039-6761 .- 2003-6248. ; 98:2, s. 79-87
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- This issue’s articles will offer views into the conditions of nation and nationalism from outside contemporary nationalism studies, or perhaps from a position that straddles the boundaries of the inside and outside of nationalism studies. We hope that they contribute in unexpected ways to focused research – sociological and beyond – on nationalism, and on nationalism’s and Christianity’s interlocking braids throughout history.
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| 6. |
- Goldman, Aaron James, et al.
(författare)
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Exceptions (to exceptions) and decisions (about decisions) in Kierkegaard’s Fear and Trembling and Schmitt’s Political Theology
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Ingår i: Political violence : Historical, philosophical and theological perspectives - Historical, philosophical and theological perspectives. - 9783110999884 - 9783110990645 ; 4
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Bokkapitel (refereegranskat)abstract
- This piece investigates a contested intersection between the decisionisms of Carl Schmitt and Søren Kierkegaard. In his Political theology (1922), Schmitt quotes from Kierkegaard’s Repetition (1843) to support his claims about sovereignty, decision, and exception. However, as I argue, it is more likely an implicit (mis)interpretation of Fear and trembling’s (1843) articulation of faith – particularly the book’s infamous idea of a “teleological suspension of the ethical” – that Schmitt wields to advance his account of sovereignty. As Fear and trembling’s Abraham stands outside the ethical (det Ethiske), so the sovereign grounds legality from the outside, each in the position to make a pure decision about how to act— or so Schmitt’s interpretation seems to go. Yet here Fear and trembling’s portrayal of faith issues a preemptive challenge to Schmitt, capturing Schmitt’s political theology with its accounts of tragic heroes, whom Kierkegaard juxtaposes with the knight of faith in order to critique the former and praise the latter. Accordingly, Kierkegaardian faith does not stand outside morality or legality altogether; faith refuses the conclusion that such an exception is necessary. I conclude by arguing that Fear and trembling’s depiction of faith nonetheless implies a form of decisionism, but one very different than Schmitt’s: the single individual decides whether social living requires a Schmittian decision or not.
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| 7. |
- Goldman, Aaron James
(författare)
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On Fear and Trembling’s Motif of the Promise : Faith, Ethics and the Politics of Tragedy
- 2020
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Ingår i: Kierkegaard Studies Yearbook. - : Walter de Gruyter GmbH. - 1430-5372 .- 1612-9792. ; 25:1, s. 57-84
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Tidskriftsartikel (refereegranskat)abstract
- This article interrogates the concepts of faith, the ethical, and tragedy in Fear and Trembling by examining Johannes De Silentio’s allusions to heroic characters. I argue that these heroes are emblematic of faith or tragedy through their orientation to a promise in their respective mythic narratives. Abraham’s faith in the covenant with God commits him to the reconcilability of virtue and the good life, while the tragic heroes’ commitments to the ethical reveal their inability to transcend the (tragic) presumption that virtue and the good life are ultimately incommensurable. I conclude by sketching a politics corresponding to De Silentio’s conception of tragedy.
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| 8. |
- Goldman, Aaron James, et al.
(författare)
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Post-Truth Implications for COVID-Era Healthcare : Verification, Trust, and Vaccine Skepticism
- 2022
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Ingår i: The Future Circle of Healthcare : AI, 3D Printing, Longevity, Ethics, and Uncertainty Mitigation - AI, 3D Printing, Longevity, Ethics, and Uncertainty Mitigation. - Cham : Springer International Publishing. - 2662-2475 .- 2662-2467. - 9783030998370 - 9783030998387 ; , s. 129-146
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Why, in the midst of the global Coronavirus pandemic, do so many people seem resistant to the recommendations of established medical experts? In this chapter, I explore possible structural causes of this resistance in the U.S. context. I argue that in the “post-truth” era, attempts to encourage people to wear face masks and get vaccinated confront challenges pertaining to how scientific knowledge is verified and disseminated. Public health interventions that fail to account for the re-duction of trust in established healthcare institutions risk reinscribing a dynamic that contributes to the further inefficacy of those interventions.
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| 9. |
- Hibar, Derrek P., et al.
(författare)
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Novel genetic loci associated with hippocampal volume
- 2017
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.
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| 10. |
- Satizabal, Claudia L., et al.
(författare)
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Genetic architecture of subcortical brain structures in 38,851 individuals
- 2019
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:11, s. 1624-
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Tidskriftsartikel (refereegranskat)abstract
- Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.
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