| 1. |
- Lee, James J, et al.
(author)
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Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
- 2018
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In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 50:8, s. 1112-1121
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Journal article (peer-reviewed)abstract
- Here we conducted a large-scale genetic association analysis of educational attainment in a sample of approximately 1.1million individuals and identify 1,271independent genome-wide-significant SNPs. For the SNPs taken together, we found evidence of heterogeneous effects across environments. The SNPs implicate genes involved in brain-development processes and neuron-to-neuron communication. In a separate analysis of the X chromosome, we identify 10independent genome-wide-significant SNPs and estimate a SNP heritability of around 0.3% in both men and women, consistent with partial dosage compensation. A joint (multi-phenotype) analysis of educational attainment and three related cognitive phenotypes generates polygenic scores that explain 11-13% of the variance in educational attainment and 7-10% of the variance in cognitive performance. This prediction accuracy substantially increases the utility of polygenic scores as tools in research.
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| 2. |
- Bowers, Mark S., et al.
(author)
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Feature issue introduction : advanced solid-state lasers
- 2022
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In: Optical Materials Express. - : Optica Publishing Group. - 2159-3930 .- 2159-3930. ; 12:6, s. 2283-2287
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Journal article (peer-reviewed)abstract
- This Joint Issue of Optics Express and Optical Materials Express features 36 state of-the art articles written by authors who participated in the international conference Advanced Solid State Lasers held online from October 3-7, 2021. This review provides a summary of these articles covering a wide spectrum of topics around solid-state lasers from materials research to sources and from design innovation to applications.
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| 3. |
- Bowers, Mark S., et al.
(author)
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Feature issue introduction : advanced solid-state lasers
- 2022
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In: Optics Express. - : Optica Publishing Group. - 1094-4087. ; 30:12, s. 20762-20766
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Journal article (peer-reviewed)abstract
- This joint issue of Optics Express and Optical Materials Express features 36 state-of-the art articles written by authors who participated in the international conference advanced solid state lasers held online from October 3-7, 2021. This review provides a summary of these articles covering a wide spectrum of topics around solid-state lasers from materials research to sources and from design innovation to applications.
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| 4. |
- Campbell, Brittany B., et al.
(author)
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Comprehensive Analysis of Hypermutation in Human Cancer
- 2017
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In: Cell. - : Elsevier BV. - 0092-8674 .- 1097-4172. ; 171:5
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Journal article (peer-reviewed)abstract
- © 2017 Elsevier Inc. We present an extensive assessment of mutation burden through sequencing analysis of > 81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused by chemotherapy, carcinogens, or germline alterations. Hypermutation was detected in tumor types not previously associated with high mutation burden. Replication repair deficiency was a major contributing factor. We uncovered new driver mutations in the replication-repair-associated DNA polymerases and a distinct impact of microsatellite instability and replication repair deficiency on the scale of mutation load. Unbiased clustering, based on mutational context, revealed clinically relevant subgroups regardless of the tumors' tissue of origin, highlighting similarities in evolutionary dynamics leading to hypermutation. Mutagens, such as UV light, were implicated in unexpected cancers, including sarcomas and lung tumors. The order of mutational signatures identified previous treatment and germline replication repair deficiency, which improved management of patients and families. These data will inform tumor classification, genetic testing, and clinical trial design. A large-scale analysis of hypermutation in human cancers provides insights into tumor evolution dynamics and identifies clinically actionable mutation signatures.
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| 5. |
- Iwanycki Ahlstrand, Natalie, et al.
(author)
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Travel Tales of a Worldwide Weed : Genomic Signatures of Plantago major L. Reveal Distinct Genotypic Groups With Links to Colonial Trade Routes
- 2022
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In: Frontiers in Plant Science. - : Frontiers Media S.A.. - 1664-462X. ; 13
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Journal article (peer-reviewed)abstract
- Retracing pathways of historical species introductions is fundamental to understanding the factors involved in the successful colonization and spread, centuries after a species’ establishment in an introduced range. Numerous plants have been introduced to regions outside their native ranges both intentionally and accidentally by European voyagers and early colonists making transoceanic journeys; however, records are scarce to document this. We use genotyping-by-sequencing and genotype-likelihood methods on the selfing, global weed, Plantago major, collected from 50 populations worldwide to investigate how patterns of genomic diversity are distributed among populations of this global weed. Although genomic differentiation among populations is found to be low, we identify six unique genotype groups showing very little sign of admixture and low degree of outcrossing among them. We show that genotype groups are latitudinally restricted, and that more than one successful genotype colonized and spread into the introduced ranges. With the exception of New Zealand, only one genotype group is present in the Southern Hemisphere. Three of the most prevalent genotypes present in the native Eurasian range gave rise to introduced populations in the Americas, Africa, Australia, and New Zealand, which could lend support to the hypothesis that P. major was unknowlingly dispersed by early European colonists. Dispersal of multiple successful genotypes is a likely reason for success. Genomic signatures and phylogeographic methods can provide new perspectives on the drivers behind the historic introductions and the successful colonization of introduced species, contributing to our understanding of the role of genomic variation for successful establishment of introduced taxa.
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| 6. |
- Krückel, Clemens, 1984, et al.
(author)
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Continuous wave-pumped wavelength conversion in low-loss silicon nitride waveguides
- 2015
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In: Optics Letters. - 0146-9592 .- 1539-4794. ; 40:6, s. 875-878
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Journal article (peer-reviewed)abstract
- In this Letter we introduce a complementary metal-oxide semiconductor (CMOS)-compatible low-loss Si3N4 waveguideplatform for nonlinear integrated optics. The waveguide has a moderate nonlinear coefficient of 285 W∕km,but the achieved propagation loss of only 0.06 dB∕cm and the ability to handle high optical power facilitate anoptimal waveguide length for wavelength conversion. We observe a constant quadratic dependence of the four-wavemixing (FWM) process on the continuous-wave (CW) pump when operating in the C-band, which indicates that thewaveguide has negligible high-power constraints owing to nonlinear losses. We achieve a conversion efficiency of−26.1 dB and idler power generation of −19.6 dBm. With these characteristics, we present for the first time, to the best of our knowledge, CW-pumped data conversion in a non-resonant Si3N4 waveguide.
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| 7. |
- Krückel, Clemens, 1984, et al.
(author)
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Wavelength Conversion in Low Loss Si3N4 Waveguides
- 2014
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In: Optics InfoBase Conference Papers. - Washington, D.C. : OSA. - 2162-2701. ; 2014-January, s. SW3M.4-
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Conference paper (peer-reviewed)abstract
- We show wavelength conversion in a compact Si3N4 waveguide. Combining low loss, long length, relatively large nonlinear coefficient, high-power handling and absence of two-photon absorption, this platform is promising for integrated nonlinear optics applications.
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| 8. |
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| 9. |
- Matsson, Hans, et al.
(author)
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Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia
- 1999
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In: Human Genetics. - 0340-6717 .- 1432-1203. ; 105:5, s. 496-500
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Journal article (peer-reviewed)abstract
- Diamond-Blackfan anemia (DBA) is a rare constitutional erythroblastopenia characterized by a specific defect in erythroid differentiation. Recently, mutations in the gene encoding ribosomal protein (RP) S19 were found in a subset of patients with the disease. To characterize further RPS19 mutations and to investigate genotype-phenotype relationships, we screened this gene for mutations in patients with DBA by direct sequencing and Southern-blot analysis. Four novel mutations were identified. A G120A nonsense mutation resulting in a stop at codon 33, a C302T nonsense mutation introducing a premature stop at codon 84, and a 327delG which results in a frame shift at codon 103. A fourth and more complex mutation (TT157-158AA, 160insCT) resulting in a Leu45Gln and a frame shift from codon 47 was found in three affected family members with variable phenotypes. The different clinical expression for identical mutations suggest the presence of other modulating factors for the disease. The mutations presented here further support the role of RPS19 in erythropoietic differentiation and proliferation.
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| 10. |
- Minzioni, Paolo, et al.
(author)
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Roadmap on all-optical processing
- 2019
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In: Journal of Optics. - : IOP Publishing. - 2040-8978 .- 2040-8986. ; 21:6
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Journal article (peer-reviewed)abstract
- The ability to process optical signals without passing into the electrical domain has always attracted the attention of the research community. Processing photons by photons unfolds new scenarios, in principle allowing for unseen signal processing and computing capabilities. Optical computation can be seen as a large scientific field in which researchers operate, trying to find solutions to their specific needs by different approaches; although the challenges can be substantially different, they are typically addressed using knowledge and technological platforms that are shared across the whole field. This significant know-how can also benefit other scientific communities, providing lateral solutions to their problems, as well as leading to novel applications. The aim of this Roadmap is to provide a broad view of the state-of-the-art in this lively scientific research field and to discuss the advances required to tackle emerging challenges, thanks to contributions authored by experts affiliated to both academic institutions and high-tech industries. The Roadmap is organized so as to put side by side contributions on different aspects of optical processing, aiming to enhance the cross-contamination of ideas between scientists working in three different fields of photonics: optical gates and logical units, high bit-rate signal processing and optical quantum computing. The ultimate intent of this paper is to provide guidance for young scientists as well as providing research-funding institutions and stake holders with a comprehensive overview of perspectives and opportunities offered by this research field.
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