| 1. |
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| 2. |
- Couch, Fergus J., et al.
(författare)
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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
- 2016
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 7:11375, s. 1-13
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Tidskriftsartikel (refereegranskat)abstract
- Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
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| 3. |
- Turro, Ernest, et al.
(författare)
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Whole-genome sequencing of patients with rare diseases in a national health system.
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 583:7814, s. 96-102
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Tidskriftsartikel (refereegranskat)abstract
- Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065extensively phenotypedparticipants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data ofUK Biobankparticipants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.
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| 4. |
- Ades, M., et al.
(författare)
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Global Climate : in State of the climate in 2019
- 2020
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Ingår i: Bulletin of The American Meteorological Society - (BAMS). - : American Meteorological Society. - 0003-0007 .- 1520-0477. ; 101:8, s. S17-S127
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Tidskriftsartikel (refereegranskat)
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| 5. |
- Ades, M., et al.
(författare)
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GLOBAL CLIMATE
- 2020
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Ingår i: BULLETIN OF THE AMERICAN METEOROLOGICAL SOCIETY. - 0003-0007 .- 1520-0477. ; 101:8
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Tidskriftsartikel (refereegranskat)
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| 6. |
- Arndt, D. S., et al.
(författare)
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STATE OF THE CLIMATE IN 2017
- 2018
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Ingår i: Bulletin of The American Meteorological Society - (BAMS). - : American Meteorological Society. - 0003-0007 .- 1520-0477. ; 99:8, s. S1-S310
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Forskningsöversikt (refereegranskat)
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| 7. |
- Cai, Haibin, et al.
(författare)
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Sensing-enhanced Therapy System for Assessing Children with Autism Spectrum Disorders : A Feasibility Study
- 2019
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Ingår i: IEEE Sensors Journal. - : Institute of Electrical and Electronics Engineers (IEEE). - 1530-437X .- 1558-1748. ; 19:4, s. 1508-1518
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Tidskriftsartikel (refereegranskat)abstract
- It is evident that recently reported robot-assisted therapy systems for assessment of children with autism spectrum disorder (ASD) lack autonomous interaction abilities and require significant human resources. This paper proposes a sensing system that automatically extracts and fuses sensory features such as body motion features, facial expressions, and gaze features, further assessing the children behaviours by mapping them to therapist-specified behavioural classes. Experimental results show that the developed system has a capability of interpreting characteristic data of children with ASD, thus has the potential to increase the autonomy of robots under the supervision of a therapist and enhance the quality of the digital description of children with ASD. The research outcomes pave the way to a feasible machine-assisted system for their behaviour assessment. IEEE
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| 8. |
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| 9. |
- Esteban, Pablo G., et al.
(författare)
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How to Build a Supervised Autonomous System for Robot-Enhanced Therapy for Children with Autism Spectrum Disorder
- 2017
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Ingår i: Paladyn - Journal of Behavioral Robotics. - : De Gruyter Open. - 2080-9778 .- 2081-4836. ; 8:1, s. 18-38
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Tidskriftsartikel (refereegranskat)abstract
- Robot-Assisted Therapy (RAT) has successfully been used to improve social skills in children with autism spectrum disorders (ASD) through remote control of the robot in so-called Wizard of Oz (WoZ) paradigms.However, there is a need to increase the autonomy of the robot both to lighten the burden on human therapists (who have to remain in control and, importantly, supervise the robot) and to provide a consistent therapeutic experience. This paper seeks to provide insight into increasing the autonomy level of social robots in therapy to move beyond WoZ. With the final aim of improved human-human social interaction for the children, this multidisciplinary research seeks to facilitate the use of social robots as tools in clinical situations by addressing the challenge of increasing robot autonomy.We introduce the clinical framework in which the developments are tested, alongside initial data obtained from patients in a first phase of the project using a WoZ set-up mimicking the targeted supervised-autonomy behaviour. We further describe the implemented system architecture capable of providing the robot with supervised autonomy.
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| 10. |
- Hamdi, Yosr, et al.
(författare)
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Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3
- 2017
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Ingår i: Breast Cancer Research and Treatment. - : Springer Science and Business Media LLC. - 0167-6806 .- 1573-7217. ; 161:1, s. 117-134
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. Methods: Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2. Results: We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10−6). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance. Conclusion: We identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.
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| 11. |
- Pilla, Rachel M., et al.
(författare)
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Global data set of long-term summertime vertical temperature profiles in 153 lakes
- 2021
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Ingår i: Scientific Data. - : Springer Nature. - 2052-4463. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- Climate change and other anthropogenic stressors have led to long-term changes in the thermal structure, including surface temperatures, deepwater temperatures, and vertical thermal gradients, in many lakes around the world. Though many studies highlight warming of surface water temperatures in lakes worldwide, less is known about long-term trends in full vertical thermal structure and deepwater temperatures, which have been changing less consistently in both direction and magnitude. Here, we present a globally-expansive data set of summertime in-situ vertical temperature profiles from 153 lakes, with one time series beginning as early as 1894. We also compiled lake geographic, morphometric, and water quality variables that can influence vertical thermal structure through a variety of potential mechanisms in these lakes. These long-term time series of vertical temperature profiles and corresponding lake characteristics serve as valuable data to help understand changes and drivers of lake thermal structure in a time of rapid global and ecological change.
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| 12. |
- Richardson, Beth, et al.
(författare)
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The Fate of the Unattended Revisited: Can Irrelevant Speech Prime the Non-dominant Interpretation of Homophones?
- 2023
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Ingår i: Auditory Perception & Cognition. - : Taylor & Francis Group. - 2574-2442 .- 2574-2450. ; 6:1-2, s. 72-96
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Tidskriftsartikel (refereegranskat)abstract
- Whether the post-categorical, semantic properties of task-irrelevant speech are processed has been a source of debate between two central accounts. The first, a structural account, proposes that the semantic content of irrelevant speech is filtered out early on, and thus remains unprocessed. The second account proposes that the semantic content of speech is, in fact, processed and can influence later behavior. The present research offers a resolution between these two prominent accounts by examining whether semantic processing of task-irrelevant speech occurs despite explicit instructions to ignore it. During a visual-verbal serial recall paradigm, participants were auditorily presented with non-dominant homophones plus their close associates, or close associates without the homophone itself and asked to ignore this irrelevant speech containing these semantic primes. In a subsequent “unrelated” phase, we assessed whether the spelling of homophones was influenced by the irrelevant speech that had occurred earlier in the serial recall phase. We found evidence of semantic priming in conditions wherein the homophone was present, as well as conditions wherein only associates of the homophone were present. Regardless of whether they were presented, homophones were more likely to be spelt in accordance with their non-dominant meaning, and most participants did not report awareness of this fact. We suggest that semantic processing of irrelevant speech occurs even when there is an explicit direction to ignore it and does not result in any material disruptive effect on serial recall performance.
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| 13. |
- Richardson, Kathleen, et al.
(författare)
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Robot Enhanced Therapy for Children with Autism (DREAM) : A Social Model of Autism
- 2018
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Ingår i: IEEE technology & society magazine. - : IEEE. - 0278-0097 .- 1937-416X. ; 37:1, s. 30-39
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Tidskriftsartikel (refereegranskat)abstract
- The development of social robots for children with autism has been a growth field for the past 15 years. This article reviews studies in robots and autism as a neurodevelopmental disorder that impacts socialcommunication development, and the ways social robots could help children with autism develop social skills. Drawing on ethics research from the EU-funded Development of Robot-Enhanced Therapy for Children with Autism (DREAM) project (framework 7), this paper explores how ethics evolves and developed in this European project.
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| 14. |
- Rosén, Julia, et al.
(författare)
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The Robot Illusion : Facts and Fiction
- 2018
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Ingår i: Proceedings of Workshop in Explainable Robotics System (HRI).
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Konferensbidrag (refereegranskat)abstract
- "To researchers and technicians working with robots on a daily basis, it is most often obvious what is part of the staging and not, and thus it may be easy to forget that illusions like these are not explicit and the that the general public may actually be deceived. Should the disclosure of the illusion be the responsibility of roboticists? Or should the assumption be that human beings, on the basis of their experiences as an audience in film, theatre, music or video gaming, assume the audience is able to enjoy the experience without needing to know everything in advance about how the illusion is created? Therefore, we believe that a discussion of whether or not researchers should be more transparent in what kinds of machines they are presenting is necessary. How can researchers present interactive robots in an engaging way, without misleading the audience?"
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| 15. |
- Thomassen, Mads, et al.
(författare)
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Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
- 2022
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 43:12, s. 1921-1944
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Tidskriftsartikel (refereegranskat)abstract
- Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3. Bioinformatically predicted spliceogenic variants underwent mRNA splicing analysis using minigenes and/or patient samples. ∆E3 was measured using quantitative analysis. A mouse embryonic stem cell (mESC) based assay was used to determine the impact of 18 variants on mRNA splicing and protein function. For each variant, population frequency, bioinformatic predictions, clinical data, and existing mRNA splicing and functional results were collated. Variant class was assigned using a gene-specific adaptation of ACMG/AMP guidelines, following a recently proposed points-based system. mRNA and mESC analysis combined identified six variants with transcript and/or functional profiles interpreted as loss of function. Cryptic splice site use for acceptor site variants generated a transcript encoding a shorter protein that retains activity. Overall, 69/85 (81%) variants were classified using the points-based approach. Our analysis shows the value of applying gene-specific ACMG/AMP guidelines using a points-based approach and highlights the consideration of cryptic splice site usage to appropriately assign PVS1 code strength.
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