| 61. |
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| 62. |
- Zhang, YD, et al.
(författare)
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Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers
- 2020
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 3353-
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data from GWAS of European ancestry across fourteen cancer sites to estimate the number of common susceptibility variants (polygenicity) and underlying effect-size distribution. All cancers show a high degree of polygenicity, involving at a minimum of thousands of loci. We project that sample sizes required to explain 80% of GWAS heritability vary from 60,000 cases for testicular to over 1,000,000 cases for lung cancer. The maximum relative risk achievable for subjects at the 99th risk percentile of underlying polygenic risk scores (PRS), compared to average risk, ranges from 12 for testicular to 2.5 for ovarian cancer. We show that PRS have potential for risk stratification for cancers of breast, colon and prostate, but less so for others because of modest heritability and lower incidence.
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| 63. |
- Berndt, Sonja, I, et al.
(författare)
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Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes
- 2022
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Ingår i: Leukemia. - : Springer Nature. - 0887-6924 .- 1476-5551. ; 36:12, s. 2835-2844
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Tidskriftsartikel (refereegranskat)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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| 64. |
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| 65. |
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| 66. |
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| 67. |
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| 68. |
- Jankowski, Wojciech J., et al.
(författare)
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Non-Abelian Hopf-Euler insulators
- 2024
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Ingår i: Physical Review B. - : American Physical Society (APS). - 2469-9950 .- 2469-9969. ; 110:7
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Tidskriftsartikel (refereegranskat)abstract
- We discuss a class of three-band non-Abelian topological insulators in three dimensions that carry a single bulk Hopf index protected by spatiotemporal (??) inversion symmetry. These phases may also host subdimensional topological invariants given by the Euler characteristic class, resulting in real Hopf-Euler insulators. Such systems naturally realize helical nodal structures in the three-dimensional Brillouin zone, providing a physical manifestation of the linking number described by the Hopf invariant. We show that, by opening a gap between the valence bands of these systems, one finds a fully-gapped “flag” phase, which displays a three-band multigap Pontryagin invariant. Unlike the previously reported ??-symmetric four-band real Hopf insulator, which hosts a ℤ⊕ℤ invariant, these phases are not unitarily equivalent to two copies of a complex two-band Hopf insulator. We show that such uncharted phases can be obtained through dimensional extension of two-dimensional Euler insulators, and that they support (i) an optical bulk integrated circular shift effect quantized by the Hopf invariant, (ii) quantum-geometric breathing in the real-space Wannier functions, and (iii) surface Euler topology on boundaries. Consequently, our findings pave the way for novel experimental realizations of real-space quantum geometry, as these systems may be directly simulated by utilizing synthetic dimensions in metamaterials or ultracold atoms.
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| 69. |
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| 70. |
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