| 1. |
- Clark, DW, et al.
(författare)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Tidskriftsartikel (refereegranskat)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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| 6. |
- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)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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| 7. |
- Carlsson, JRA, et al.
(författare)
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A new silicon phosphide, Si12P5 : Formation conditions, structure, and properties
- 1997
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Ingår i: Journal of Vacuum Science and Technology A. - : American Vacuum Society. - 0734-2101. ; 15:2, s. 394-401
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Tidskriftsartikel (refereegranskat)abstract
- The formation conditions, structure, and properties of the recently discovered phosphide, Si12P5 (initially assigned Si7P3), have been studied using x-ray diffraction, high-resolution transmission electron microscopy, photospectrometry, and a four-point probe. The phosphide formed in amorphous Si-P alloy thin films with 30, 35 and 44 at. % P after annealing at 1000°C for 30 min. During annealing at 1100°C, the phosphide dissociated through P evaporation. The Si12P5 phase is proposed to have rhombohedral symmetry with a P31m space group and a C5W12 structure. The hexagonal lattice parameters measured were a = 6.16±0.05 Å and c = 13.17±0.01 Å. The optical band gap and the electrical resistivity of the phosphide were determined to be 1.55 eV and 5 mΩ cm, respectively. The Gibbs free energy diagram for the Si-P system was modified to include this new Si12P5 phase.
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| 13. |
- Sjöström, H, et al.
(författare)
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Reactive magnetron sputter deposition of CNx films on Si(001) substrates : film growth, microstructure and mechanical properties
- 1994
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Ingår i: Thin Solid Films. - : Elsevier BV. - 0040-6090. ; 246:1-2, s. 103-109
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Tidskriftsartikel (refereegranskat)abstract
- There is currently considerable interest in producing new materials with extreme combinations of mechanical properties such as high hardnesses and moduli. One example of such a material is crystalline C3N4, which has been predicted to have a bulk modulus higher than that of diamond. In this paper we report on experiments carried out to synthesize CNx thin films. The films were grown in an unbalanced magnetron-sputtering system by reactive sputtering of C in N2 discharges. Si(001) substrates with the native oxide removed by thermal desorption and then kept at temperatures ranging from 150 to 600°C and substrate bias voltages Vs between 7.5 and -200 V were used. The films were analysed using X-ray diffraction, transmission electron microscopy (TEM). Auger electron spectroscopy, Rutherford backscattering and nano-indentation tests. Typically the films were grown at rates of 5 nm s-1 to total thicknesses of 300 nm. Owing to an extensive re-sputtering, only low negative bias voltages (-80
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| 14. |
- Suenaga, K, et al.
(författare)
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Carbon nitride nanotubulite - densely-packed and well-aligned tubular nanostructures
- 1999
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Ingår i: Chemical Physics Letters. - 0009-2614. ; 300:5-6, s. 695-700
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Tidskriftsartikel (refereegranskat)abstract
- Tubular carbon nitride (CNx, x=0.01–0.32) nanoparticles were successfully synthesized by d.c. magnetron sputtering. These tubes were grown in a highly packed form perpendicularly on a sodium chloride substrate. Their number density is estimated to be ∼1×104 per μm2 and is constant over macroscopic regions. Sub-nanometer scale chemical mapping shows that the nitrogen to carbon atomic ratio is rather constant across these tubes. This successful synthesis of a nanotubulite – made of a rather compact aggregation of tubular nanoparticles – could facilitate experimental approaches to measure mechanical or electrical transport properties of such nanotubes and to open the way to variable nanotube applications.
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