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- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 6. |
- Glasbey, JC, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 7. |
- Liu, DJ, et al.
(författare)
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Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations
- 2023
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 55:3, s. 369-
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Tidskriftsartikel (refereegranskat)abstract
- Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions encountered in medical practice. A recent landmark SCZ study of the protein-coding regions of the genome identified a causal role for ten genes and a concentration of rare variant signals in evolutionarily constrained genes1. This recent study—and most other large-scale human genetics studies—was mainly composed of individuals of European (EUR) ancestry, and the generalizability of the findings in non-EUR populations remains unclear. To address this gap, we designed a custom sequencing panel of 161 genes selected based on the current knowledge of SCZ genetics and sequenced a new cohort of 11,580 SCZ cases and 10,555 controls of diverse ancestries. Replicating earlier work, we found that cases carried a significantly higher burden of rare protein-truncating variants (PTVs) among evolutionarily constrained genes (odds ratio = 1.48; P = 5.4 × 10−6). In meta-analyses with existing datasets totaling up to 35,828 cases and 107,877 controls, this excess burden was largely consistent across five ancestral populations. Two genes (SRRM2 and AKAP11) were newly implicated as SCZ risk genes, and one gene (PCLO) was identified as shared by individuals with SCZ and those with autism. Overall, our results lend robust support to the rare allelic spectrum of the genetic architecture of SCZ being conserved across diverse human populations.
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| 9. |
- Ayub Khan, Fahima, et al.
(författare)
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Investigating code-switching and disfluencies in bilingual dialogue
- 2022
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Ingår i: Proceedings of the 26th Workshop on the Semantics and Pragmatics of Dialogue - Poster Abstracts.
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Konferensbidrag (refereegranskat)abstract
- This paper investigates the relationship between disfluency and code-switching in bilingual dialogue. We examine a corpus of 41 bilingual (Spanish-English) conversations and test the hypothesis that code-switching can be a response to negative evidence of grounding in the form of disfluencies. We find that there is a statistically significant relation between disfluencies and code-switching. Particularly, disfluencies have a positive effect on within turn code-switching.
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- Irfan, Muhammad, et al.
(författare)
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Benchmark study of UV/Visible spectra of coumarin derivatives by computational approach
- 2017
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Ingår i: Journal of Molecular Structure. - : Elsevier BV. - 0022-2860 .- 1872-8014. ; 1130, s. 603-616
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Tidskriftsartikel (refereegranskat)abstract
- A benchmark study of UV/Visible spectra of Simple coumarins and Furanocoumarins derivatives was conducted by employing the Density Functional Theory (DFT) and Time Dependent Density Functional Theory (TD-DFT) approaches. In this study the geometries of ground and excited states, excitation energy and absorption spectra were estimated by using the DFT functional CAM-B3LYP, WB97XD, HSEH1PBE, MPW1PW91 and TD-B3LYP with 6-31 + G (d,p) basis set. CAM-B3LYP functional was found to have close agreement with the experimental values of Furranocoumarin class of coumarins while MPW1PW91 gave close results for simple coumarins. This study provided an insight about the electronic characteristics of the selected compounds and provided an effective tool for developing and designing the better UV absorber compounds.
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