| 1. |
- Elks, Cathy E, et al.
(författare)
-
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:12, s. 1077-85
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Tidskriftsartikel (refereegranskat)abstract
- To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide association studies in 87,802 women of European descent, with replication in up to 14,731 women. In addition to the known loci at LIN28B (P = 5.4 × 10⁻⁶⁰) and 9q31.2 (P = 2.2 × 10⁻³³), we identified 30 new menarche loci (all P < 5 × 10⁻⁸) and found suggestive evidence for a further 10 loci (P < 1.9 × 10⁻⁶). The new loci included four previously associated with body mass index (in or near FTO, SEC16B, TRA2B and TMEM18), three in or near other genes implicated in energy homeostasis (BSX, CRTC1 and MCHR2) and three in or near genes implicated in hormonal regulation (INHBA, PCSK2 and RXRG). Ingenuity and gene-set enrichment pathway analyses identified coenzyme A and fatty acid biosynthesis as biological processes related to menarche timing.
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| 2. |
- Do, Ron, et al.
(författare)
-
Common variants associated with plasma triglycerides and risk for coronary artery disease
- 2013
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:11, s. 1345-
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Tidskriftsartikel (refereegranskat)abstract
- Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common variants recently mapped for plasma lipids (P < 5 x 10(-8) for each) to examine the role of triglycerides in risk for CAD. First, we highlight loci associated with both low-density lipoprotein cholesterol (LDL-C) and triglyceride levels, and we show that the direction and magnitude of the associations with both traits are factors in determining CAD risk. Second, we consider loci with only a strong association with triglycerides and show that these loci are also associated with CAD. Finally, in a model accounting for effects on LDL-C and/or high-density lipoprotein cholesterol (HDL-C) levels, the strength of a polymorphism's effect on triglyceride levels is correlated with the magnitude of its effect on CAD risk. These results suggest that triglyceride-rich lipoproteins causally influence risk for CAD.
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| 3. |
- Rivas, Manuel A., et al.
(författare)
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A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
- 2016
-
Ingår i: Nature Communications. - London, United Kingdom : Nature Publishing Group. - 2041-1723. ; 7
-
Tidskriftsartikel (refereegranskat)abstract
- Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. Through replication genotyping and imputation we found that a predicted protein-truncating variant (rs36095412, p.R179X, genotyped in 11,148 ulcerative colitis patients and 295,446 controls, MAF=up to 0.78%) in RNF186, a single-exon ring finger E3 ligase with strong colonic expression, protects against ulcerative colitis (overall P=6.89 × 10(-7), odds ratio=0.30). We further demonstrate that the truncated protein exhibits reduced expression and altered subcellular localization, suggesting the protective mechanism may reside in the loss of an interaction or function via mislocalization and/or loss of an essential transmembrane domain.
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| 4. |
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| 5. |
- Willer, Cristen J., et al.
(författare)
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Discovery and refinement of loci associated with lipid levels
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:11, s. 1274-1283
-
Tidskriftsartikel (refereegranskat)abstract
- Levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides and total cholesterol are heritable, modifiable risk factors for coronary artery disease. To identify new loci and refine known loci influencing these lipids, we examined 188,577 individuals using genome-wide and custom genotyping arrays. We identify and annotate 157 loci associated with lipid levels at P < 5 x 10(-8), including 62 loci not previously associated with lipid levels in humans. Using dense genotyping in individuals of European, East Asian, South Asian and African ancestry, we narrow association signals in 12 loci. We find that loci associated with blood lipid levels are often associated with cardiovascular and metabolic traits, including coronary artery disease, type 2 diabetes, blood pressure, waist-hip ratio and body mass index. Our results demonstrate the value of using genetic data from individuals of diverse ancestry and provide insights into the biological mechanisms regulating blood lipids to guide future genetic, biological and therapeutic research.
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| 6. |
- Evangelou, Evangelos, et al.
(författare)
-
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
- 2018
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 50:10, s. 1412-1425
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Tidskriftsartikel (refereegranskat)abstract
- High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.
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| 7. |
- Stolk, Lisette, et al.
(författare)
-
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
- 2012
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 260-268
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Tidskriftsartikel (refereegranskat)abstract
- To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause.
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| 8. |
- Surendran, Praveen, et al.
(författare)
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Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
- 2016
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:10, s. 1151-1161
-
Tidskriftsartikel (refereegranskat)abstract
- High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to 192,763 individuals and used -1/4155,063 samples for independent replication. We identified 30 new blood pressure- or hypertension-associated genetic regions in the general population, including 3 rare missense variants in RBM47, COL21A1 and RRAS with larger effects (>1.5 mm Hg/allele) than common variants. Multiple rare nonsense and missense variant associations were found in A2ML1, and a low-frequency nonsense variant in ENPEP was identified. Our data extend the spectrum of allelic variation underlying blood pressure traits and hypertension, provide new insights into the pathophysiology of hypertension and indicate new targets for clinical intervention.
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| 9. |
- Wain, Louise V., et al.
(författare)
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Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney
- 2017
-
Ingår i: Hypertension. - 0194-911X .- 1524-4563. ; 70:3, s. e4-e19
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Tidskriftsartikel (refereegranskat)abstract
- Elevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel blood pressure loci, we used 1000 Genomes Project-based imputation in 150 134 European ancestry individuals and sought significant evidence for independent replication in a further 228 245 individuals. We report 6 new signals of association in or near HSPB7, TNXB, LRP12, LOC283335, SEPT9, and AKT2, and provide new replication evidence for a further 2 signals in EBF2 and NFKBIA. Combining large whole-blood gene expression resources totaling 12 607 individuals, we investigated all novel and previously reported signals and identified 48 genes with evidence for involvement in blood pressure regulation that are significant in multiple resources. Three novel kidney-specific signals were also detected. These robustly implicated genes may provide new leads for therapeutic innovation.
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| 10. |
- Zhou, Wei, et al.
(författare)
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Global Biobank Meta-analysis Initiative : Powering genetic discovery across human disease
- 2022
-
Ingår i: Cell Genomics. - : Elsevier. - 2666-979X. ; 2:10
-
Tidskriftsartikel (refereegranskat)abstract
- Biobanks facilitate genome-wide association studies (GWASs), which have mapped genomic loci across a range of human diseases and traits. However, most biobanks are primarily composed of individuals of European ancestry. We introduce the Global Biobank Meta-analysis Initiative (GBMI)-a collaborative network of 23 biobanks from 4 continents representing more than 2.2 million consented individuals with genetic data linked to electronic health records. GBMI meta-analyzes summary statistics from GWASs generated using harmonized genotypes and phenotypes from member biobanks for 14 exemplar diseases and endpoints. This strategy validates that GWASs conducted in diverse biobanks can be integrated despite heterogeneity in case definitions, recruitment strategies, and baseline characteristics. This collaborative effort improves GWAS power for diseases, benefits understudied diseases, and improves risk prediction while also enabling the nomination of disease genes and drug candidates by incorporating gene and protein expression data and providing insight into the underlying biology of human diseases and traits.
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| 11. |
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| 12. |
- Aarno, Daniel, et al.
(författare)
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Adaptive virtual fixtures for machine-assisted teleoperation tasks
- 2005
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Ingår i: 2005 IEEE International Conference on Robotics and Automation (ICRA), Vols 1-4. - 078038914X ; , s. 1139-1144
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Konferensbidrag (refereegranskat)abstract
- It has been demonstrated in a number of robotic areas how the use of virtual fixtures improves task performance both in terms of execution time and overall precision, [1]. However, the fixtures are typically inflexible, resulting in a degraded performance in cases of unexpected obstacles or incorrect fixture models. In this paper, we propose the use of adaptive virtual fixtures that enable us to cope with the above problems. A teleoperative or human machine collaborative setting is assumed with the core idea of dividing the task, that the operator is executing, into several subtasks. The operator may remain in each of these subtasks as long as necessary and switch freely between them. Hence, rather than executing a predefined plan, the operator has the ability to avoid unforeseen obstacles and deviate from the model. In our system, the probability that the user is following a certain trajectory (subtask) is estimated and used to automatically adjusts the compliance. Thus, an on-line decision of how to fixture the movement is provided.
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| 13. |
- Aarno, Daniel, et al.
(författare)
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Artificial potential biased probabilistic roadmap method
- 2004
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Ingår i: 2004 IEEE INTERNATIONAL CONFERENCE ON ROBOTICS AND AUTOMATION, VOLS 1- 5, PROCEEDINGS. - 0780382323 ; , s. 461-466
-
Konferensbidrag (refereegranskat)abstract
- Probabilistic roadmap methods (PRMs) have been successfully used to solve difficult path planning problems but their efficiency is limited when the free space contains narrow passages through which the robot must pass. This paper presents a new sampling scheme that aims to increase the probability of finding paths through narrow passages. Here, a biased sampling scheme is used to increase the distribution of nodes in narrow regions of the free space. A partial computation of the artificial potential field is used to bias the distribution of nodes.
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| 14. |
- Aarno, Daniel, et al.
(författare)
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Constrained path planning and task-consistent path adaptation for mobile manipulators
- 2005
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Ingår i: 2005 12th International Conference on Advanced Robotics. - 0780391772 ; , s. 268-273
-
Konferensbidrag (refereegranskat)abstract
- This paper presents our ongoing research in the design of a versatile service robot capable of operating in a home or office environment. Ideas presented here cover architectural issues and possible applications for such a robot system with focus on tasks requiring constrained end-effector motions. Two key components of such system is a path planner and a reactive behavior capable of force relaxation and path adaptation. These components are presented in detail along with an overview of the software architecture they fit into.
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| 15. |
- Aarno, Daniel, et al.
(författare)
-
Early reactive grasping with second order 3D feature relations
- 2008
-
Ingår i: Recent Progress In Robotics: Viable Robotic Service To Human. - Berlin, Heidelberg : Springer Berlin Heidelberg. - 9783540767282 ; , s. 91-105
-
Konferensbidrag (refereegranskat)abstract
- One of the main challenges in the field of robotics is to make robots ubiquitous. To intelligently interact with the world, such robots need to understand the environment and situations around them and react appropriately, they need context-awareness. But how to equip robots with capabilities of gathering and interpreting the necessary information for novel tasks through interaction with the environment and by providing some minimal knowledge in advance? This has been a longterm question and one of the main drives in the field of cognitive system development. The main idea behind the work presented in this paper is that the robot should, like a human infant, learn about objects by interacting with them, forming representations of the objects and their categories that are grounded in its embodiment. For this purpose, we study an early learning of object grasping process where the agent, based on a set of innate reflexes and knowledge about its embodiment. We stress out that this is not the work on grasping, it is a system that interacts with the environment based on relations of 3D visual features generated trough a stereo vision system. We show how geometry, appearance and spatial relations between the features can guide early reactive grasping which can later on be used in a more purposive manner when interacting with the environment.
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| 16. |
- Aarno, Daniel, 1979-
(författare)
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Intention recognition in human machine collaborative systems
- 2007
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Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Robotsystem har använts flitigt under de senaste årtiondena för att skapa automationslösningar i ett flertal områden. De flesta nuvarande automationslösningarna är begränsade av att uppgifterna de kan lösa måste vara repetitiva och förutsägbara. En av anledningarna till detta är att dagens robotsystem saknar förmåga att förstå och resonera om omvärlden. På grund av detta har forskare inom robotik och artificiell intelligens försökt att skapa intelligentare maskiner. Trots att stora framsteg har gjorts då det gäller att skapa robotar som kan fungera och interagera i en mänsklig miljö så finns det för nuvarande inget system som kommer i närheten av den mänskliga förmågan att resonera om omvärlden. För att förenkla problemet har vissa forskare föreslagit en alternativ lösning till helt självständiga robotar som verkar i mänskliga miljöer. Alternativet är att kombinera människors och maskiners förmågor. Exempelvis så kan en person verka på en avlägsen plats, som kanske inte är tillgänglig för personen i fråga på grund av olika orsaker, genom att använda fjärrstyrning. Vid fjärrstyrning skickar operatören kommandon till en robot som verkar som en förlängning av operatörens egen kropp. Segmentering och identifiering av rörelser skapade av en operatör kan användas för att tillhandahålla korrekt assistans vid fjärrstyrning eller samarbete mellan människa och maskin. Assistansen sker ofta inom ramen för virtuella fixturer där eftergivenheten hos fixturen kan justeras under exekveringen för att tillhandahålla ökad prestanda i form av ökad precision och minskad tid för att utföra uppgiften. Den här avhandlingen fokuserar på två aspekter av samarbete mellan människa och maskin. Klassificering av en operatörs rörelser till ett på förhand specificerat tillstånd under en manipuleringsuppgift och assistans under manipuleringsuppgiften baserat på virtuella fixturer. Den specifika tillämpningen som behandlas är manipuleringsuppgifter där en mänsklig operatör styr en robotmanipulator i ett fjärrstyrt eller samarbetande system. En metod för att följa förloppet av en uppgift medan den utförs genom att använda virtuella fixturer presenteras. Istället för att följa en på förhand specificerad plan så har operatören möjlighet att undvika oväntade hinder och avvika från modellen. För att möjliggöra detta estimeras kontinuerligt sannolikheten att operatören följer en viss trajektorie (deluppgift). Estimatet används sedan för att justera eftergivenheten hos den virtuella fixturen så att ett beslut om hur rörelsen ska fixeras kan tas medan uppgiften utförs. En flerlagers dold Markovmodell (eng. layered hidden Markov model) används för att modellera mänskliga färdigheter. En gestemklassificerare som klassificerar en operatörs rörelser till olika grundläggande handlingsprimitiver, eller gestemer, evalueras. Gestemklassificerarna används sedan i en flerlagers dold Markovmodell för att modellera en simulerad fjärrstyrd manipuleringsuppgift. Klassificeringsprestandan utvärderas med avseende på brus, antalet gestemer, typen på den dolda Markovmodellen och antalet tillgängliga träningssekvenser. Den flerlagers dolda Markovmodellen tillämpas sedan på data från en trajektorieföljningsuppgift i 2D och 3D med en robotmanipulator för att ge både kvalitativa och kvantitativa resultat. Resultaten tyder på att den flerlagers dolda Markovmodellen är väl lämpad för att modellera trajektorieföljningsuppgifter och att den flerlagers dolda Markovmodellen är robust med avseende på felklassificeringar i de underliggande gestemklassificerarna.
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| 17. |
- Aarno, Daniel, et al.
(författare)
-
Layered HMM for motion intention recognition
- 2006
-
Ingår i: 2006 IEEE/RSJ International Conference on Intelligent Robots and Systems, Vols 1-12. - NEW YORK : IEEE. - 9781424402588 ; , s. 5130-5135
-
Konferensbidrag (refereegranskat)abstract
- Acquiring, representing and modeling human skins is one of the key research areas in teleoperation, programming. by-demonstration and human-machine collaborative settings. One of the common approaches is to divide the task that the operator is executing into several subtasks in order to provide manageable modeling. In this paper we consider the use of a Layered Hidden Markov Model (LHMM) to model human skills. We evaluate a gestem classifier that classifies motions into basic action-primitives, or gestems. The gestem classifiers are then used in a LHMM to model a simulated teleoperated task. We investigate the online and offline classilication performance with respect to noise, number of gestems, type of HAIM and the available number of training sequences. We also apply the LHMM to data recorded during the execution of a trajectory-tracking task in 2D and 3D with a robotic manipulator in order to give qualitative as well as quantitative results for the proposed approach. The results indicate that the LHMM is suitable for modeling teleoperative trajectory-tracking tasks and that the difference in classification performance between one and multi dimensional HMMs for gestem classification is small. It can also be seen that the LHMM is robust w.r.t misclassifications in the underlying gestem classifiers.
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| 18. |
- Aarno, Daniel, et al.
(författare)
-
Motion intention recognition in robot assisted applications
- 2008
-
Ingår i: Robotics and Autonomous Systems. - : Elsevier BV. - 0921-8890 .- 1872-793X. ; 56:8, s. 692-705
-
Tidskriftsartikel (refereegranskat)abstract
- Acquiring, representing and modelling human skills is one of the key research areas in teleoperation, programming-by-demonstration and human-machine collaborative settings. The problems are challenging mainly because of the lack of a general mathematical model to describe human skills. One of the common approaches is to divide the task that the operator is executing into several subtasks or low-level subsystems in order to provide manageable modelling. In this paper we consider the use of a Layered Hidden Markov Model (LHMM) to model human skills. We evaluate a gesteme classifier that classifies motions into basic action-primitives, or gestemes. The gesteme classifiers are then used in a LHMM to model a teleoperated task. The proposed methodology uses three different HMM models at the gesteme level: one-dimensional HMM, multi-dimensional HMM and multidimensional HMM with Fourier transform. The online and off-line classification performance of these three models is evaluated with respect to the number of gestemes, the influence of the number of training samples, the effect of noise and the effect of the number of observation symbols. We also apply the LHMM to data recorded during the execution of a trajectory tracking task in 2D and 3D with a mobile manipulator in order to provide qualitative as well as quantitative results for the proposed approach. The results indicate that the LHMM is suitable for modelling teleoperative trajectory-tracking tasks and that the difference in classification performance between one and multidimensional HMMs for gesteme classification is small. It can also be seen that the LHMM is robust with respect to misclassifications in the underlying gesteme classifiers.
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| 19. |
- Berndt, Sonja I., et al.
(författare)
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
- 2013
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:5, s. 501-U69
-
Tidskriftsartikel (refereegranskat)abstract
- Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
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| 20. |
- Craddock, Nick, et al.
(författare)
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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- 2010
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
-
Tidskriftsartikel (refereegranskat)abstract
- Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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| 21. |
- Ekvall, Staffan, et al.
(författare)
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Online task recognition and real-time adaptive assistance for computer-aided machine control
- 2006
-
Ingår i: IEEE Transactions on robotics. - 1552-3098 .- 1941-0468. ; 22:5, s. 1029-1033
-
Tidskriftsartikel (refereegranskat)abstract
- Segmentation and recognition of operator-generated motions are commonly facilitated to provide appropriate assistance during task execution in teleoperative and human-machine collaborative settings. The assistance is usually provided in a virtual fixture framework where the level of compliance can be altered online, thus improving the performance in terms of execution time and overall precision. However, the fixtures are typically inflexible, resulting in a degraded performance in cases of unexpected obstacles or incorrect fixture models. In this paper, we present a method for online task tracking and propose the use of adaptive virtual fixtures that can cope with the above problems. Here, rather than executing a predefined plan, the operator has the ability to avoid unforeseen obstacles and deviate from the model. To allow this, the probability of following a certain trajectory (subtask) is estimated and used to automatically adjusts the compliance, thus providing the online decision of how to fixture the movement.
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| 22. |
- Ekvall, Staffan, et al.
(författare)
-
Task Learning Using Graphical Programming and Human Demonstrations
- 2006
-
Ingår i: Proceedings - IEEE International Workshop on Robot and Human Interactive Communication. ; , s. 398-403
-
Konferensbidrag (refereegranskat)abstract
- The next generation of robots will have to learn new tasks or refine the existing ones through direct interaction with the environment or through a teaching/coaching process in programming by demonstration (PbD) and learning by instruction frameworks. In this paper, we propose to extend the classical PbD approach with a graphical language that makes robot coaching easier. The main idea is based on graphical programming where the user designs complex robot tasks by using a set of low-level action primitives. Different to other systems, our action primitives are made general and flexible so that the user can train them online and therefore easily design high level tasks
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| 23. |
- Gustavsson, Ulf, 1975, et al.
(författare)
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Implementation challenges and opportunities in beyond-5G and 6G communication
- 2021
-
Ingår i: IEEE Journal of Microwaves. - 2692-8388. ; 1:1, s. 86-100
-
Tidskriftsartikel (refereegranskat)abstract
- As 5G New Radio (NR) is being rolled out, research effort is being focused on the evolution of what is to come in the post-5G era. In order to meet the diverse requirements of future wireless communication in terms of increased capacity and reduced latency, technologies such as distributed massive Multiple-Input Multiple-Output (MIMO), sub-millimeter wave and Tera-hertz spectrum become technology components of interest. Furthermore, to meet the demands on connectivity anywhere at anytime, non-terrestrial satellite networks will be needed, which brings about challenges both in terms of implementation as well as deployment. Finally, scaling up massive Internet-of-Things (IoT), energy harvesting and Simultaneous Wireless Information and Power Transfer (SWIPT) is foreseen to become important enablers when deploying a large amount of small, low-power radios. In this paper, we will discuss some of the important opportunities these technologies bring, and the challenges faced by the microwave and wireless communication communities.
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| 24. |
- Jensfelt, Patric, et al.
(författare)
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Augmenting slam with object detection in a service robot framework
- 2006
-
Ingår i: Proceedings, IEEE International Workshop on Robot and Human Interactive Communication. ; , s. 741-746
-
Konferensbidrag (refereegranskat)abstract
- In a service robot scenario, we are interested in a task of building maps of the environment that include automatically recognized objects. Most systems for simultaneous localization and mapping (SLAM) build maps that are only used for localizing the robot. Such maps are typically based on grids or different types of features such as point and lines. Here, we augment the process with an object recognition system that detects objects in the environment and puts them in the map generated by the SLAM system. During task execution, the robot can use this information to reason about objects, places and their relationships. The metric map is also split into topological entities corresponding to rooms. In this way, the user can command the robot to retrieve an object from a particular room or get help from a robot when searching for a certain object
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| 25. |
- Kilpeläinen, Tuomas O, et al.
(författare)
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Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels
- 2016
-
Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Leptin is an adipocyte-secreted hormone, the circulating levels of which correlate closely with overall adiposity. Although rare mutations in the leptin (LEP) gene are well known to cause leptin deficiency and severe obesity, no common loci regulating circulating leptin levels have been uncovered. Therefore, we performed a genome-wide association study (GWAS) of circulating leptin levels from 32,161 individuals and followed up loci reaching P<10(-6) in 19,979 additional individuals. We identify five loci robustly associated (P<5 × 10(-8)) with leptin levels in/near LEP, SLC32A1, GCKR, CCNL1 and FTO. Although the association of the FTO obesity locus with leptin levels is abolished by adjustment for BMI, associations of the four other loci are independent of adiposity. The GCKR locus was found associated with multiple metabolic traits in previous GWAS and the CCNL1 locus with birth weight. Knockdown experiments in mouse adipose tissue explants show convincing evidence for adipogenin, a regulator of adipocyte differentiation, as the novel causal gene in the SLC32A1 locus influencing leptin levels. Our findings provide novel insights into the regulation of leptin production by adipose tissue and open new avenues for examining the influence of variation in leptin levels on adiposity and metabolic health.
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| 26. |
- Kragic, Danica, et al.
(författare)
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Sensor Integration and Task Planning for Mobile Manipulation
- 2004
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Konferensbidrag (refereegranskat)abstract
- Robotic mobile manipulation in unstructured environments requires integration of a number of key reasearch areas such as localization, navigation, object recognition, visual tracking/servoing, grasping and object manipulation. It has been demonstrated that, given the above, and through simple sequencing of basic skills, a robust system can be designed, [19]. In order to provide the robustness and flexibility required of the overall robotic system in unstructured and dynamic everyday environments, it is important to consider a wide range of individual skills using different sensory modalities. In this work, we consider a combination of deliberative and reactive control together with the use of multiple sensory modalities for modeling and execution of manipulation tasks. Special consideration is given to the design of a vision system necessary for object recognition and scene segmentation as well as learning principles in terms of grasping.
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| 27. |
- Laurila, Pirkka-Pekka, et al.
(författare)
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Genomic, transcriptomic, and lipidomic profiling highlights the role of inflammation in individuals with low high-density lipoprotein cholesterol
- 2013
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Ingår i: Arteriosclerosis, Thrombosis and Vascular Biology. - : Lippincott Williams & Wilkins. - 1079-5642 .- 1524-4636. ; 33:4, s. 847-857
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Low high-density lipoprotein cholesterol (HDL-C) is associated with cardiometabolic pathologies. In this study, we investigate the biological pathways and individual genes behind low HDL-C by integrating results from 3 high-throughput data sources: adipose tissue transcriptomics, HDL lipidomics, and dense marker genotypes from Finnish individuals with low or high HDL-C (n=450).APPROACH AND RESULTS: In the pathway analysis of genetic data, we demonstrate that genetic variants within inflammatory pathways were enriched among low HDL-C associated single-nucleotide polymorphisms, and the expression of these pathways upregulated in the adipose tissue of low HDL-C subjects. The lipidomic analysis highlighted the change in HDL particle quality toward putatively more inflammatory and less vasoprotective state in subjects with low HDL-C, as evidenced by their decreased antioxidative plasmalogen contents. We show that the focal point of these inflammatory pathways seems to be the HLA region with its low HDL-associated alleles also associating with more abundant local transcript levels in adipose tissue, increased plasma vascular cell adhesion molecule 1 (VCAM1) levels, and decreased HDL particle plasmalogen contents, markers of adipose tissue inflammation, vascular inflammation, and HDL antioxidative potential, respectively. In a population-based look-up of the inflammatory pathway single-nucleotide polymorphisms in a large Finnish cohorts (n=11 211), no association of the HLA region was detected for HDL-C as quantitative trait, but with extreme HDL-C phenotypes, implying the presence of low or high HDL genes in addition to the population-genomewide association studies-identified HDL genes.CONCLUSIONS: Our study highlights the role of inflammation with a genetic component in subjects with low HDL-C and identifies novel cis-expression quantitative trait loci (cis-eQTL) variants in HLA region to be associated with low HDL-C.
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| 28. |
- Law, Philip J., et al.
(författare)
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Association analyses identify 31 new risk loci for colorectal cancer susceptibility
- 2019
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of 34,627 CRC cases and 71,379 controls of European ancestry that identifies SNPs at 31 new CRC risk loci. We also identify eight independent risk SNPs at the new and previously reported European CRC loci, and a further nine CRC SNPs at loci previously only identified in Asian populations. We use in situ promoter capture Hi-C (CHi-C), gene expression, and in silico annotation methods to identify likely target genes of CRC SNPs. Whilst these new SNP associations implicate target genes that are enriched for known CRC pathways such as Wnt and BMP, they also highlight novel pathways with no prior links to colorectal tumourigenesis. These findings provide further insight into CRC susceptibility and enhance the prospects of applying genetic risk scores to personalised screening and prevention.
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| 29. |
- Lim, Elaine T, et al.
(författare)
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Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.
- 2014
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 10:7
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Tidskriftsartikel (refereegranskat)abstract
- Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk and the presence of large numbers of neutral variants, even in phenotypically relevant genes. Isolated populations with recent bottlenecks offer advantages for studying rare variants in complex diseases as they have deleterious variants that are present at higher frequencies as well as a substantial reduction in rare neutral variation. To explore the potential of the Finnish founder population for studying low-frequency (0.5-5%) variants in complex diseases, we compared exome sequence data on 3,000 Finns to the same number of non-Finnish Europeans and discovered that, despite having fewer variable sites overall, the average Finn has more low-frequency loss-of-function variants and complete gene knockouts. We then used several well-characterized Finnish population cohorts to study the phenotypic effects of 83 enriched loss-of-function variants across 60 phenotypes in 36,262 Finns. Using a deep set of quantitative traits collected on these cohorts, we show 5 associations (p<5×10-8) including splice variants in LPA that lowered plasma lipoprotein(a) levels (P = 1.5×10-117). Through accessing the national medical records of these participants, we evaluate the LPA finding via Mendelian randomization and confirm that these splice variants confer protection from cardiovascular disease (OR = 0.84, P = 3×10-4), demonstrating for the first time the correlation between very low levels of LPA in humans with potential therapeutic implications for cardiovascular diseases. More generally, this study articulates substantial advantages for studying the role of rare variation in complex phenotypes in founder populations like the Finns and by combining a unique population genetic history with data from large population cohorts and centralized research access to National Health Registers.
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| 30. |
- Lu, Yingchang, et al.
(författare)
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New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- To increase our understanding of the genetic basis of adiposity and its links to cardiometabolic disease risk, we conducted a genome-wide association meta-analysis of body fat percentage (BF%) in up to 100,716 individuals. Twelve loci reached genome-wide significance (P<5 × 10(-8)), of which eight were previously associated with increased overall adiposity (BMI, BF%) and four (in or near COBLL1/GRB14, IGF2BP1, PLA2G6, CRTC1) were novel associations with BF%. Seven loci showed a larger effect on BF% than on BMI, suggestive of a primary association with adiposity, while five loci showed larger effects on BMI than on BF%, suggesting association with both fat and lean mass. In particular, the loci more strongly associated with BF% showed distinct cross-phenotype association signatures with a range of cardiometabolic traits revealing new insights in the link between adiposity and disease risk.
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| 31. |
- Manning, Alisa, et al.
(författare)
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A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk
- 2017
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Ingår i: Diabetes. - : AMER DIABETES ASSOC. - 0012-1797 .- 1939-327X. ; 66:7, s. 2019-2032
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Tidskriftsartikel (refereegranskat)abstract
- To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in AKT2 and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in AKT2 associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of AKT2.
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| 32. |
- Nilsson, Eric, et al.
(författare)
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Accelerating Graphics in the Simics Full-System Simulator
- 2015
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Konferensbidrag (refereegranskat)abstract
- Virtual platforms provide benefits to developers in terms of a more rapid development cycle since development may begin before next-generation hardware is available. However, there is a distinct lack of graphics virtualization in industry-grade virtual platforms, leading to performance issues that may reduce the benefits virtual platforms otherwise have over execution on actual hardware. This paper demonstrates graphics acceleration by the means of paravirtualizing OpenGL ES in the Wind River Simics full-system simulator. We propose a solution for paravirtualized graphics using magic instructions to share memory between target and host systems, and present an implementation utilizing this method. The study illustrates the benefits and drawbacks of paravirtualized graphics acceleration and presents a performance analysis of strengths and weaknesses compared to software rasterization. Additionally, benchmarks are devised to stress key aspects in the solution, such as communication latency and computationally intensive applications. We assess paravirtualization as a viable method to accelerate graphics in system simulators, this reduces frame times up to 34 times compared to that of software rasterization. Furthermore, magic instructions are identified as the primary bottleneck of communication latency in the implementation.
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| 33. |
- Ried, Janina S., et al.
(författare)
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A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
- 2016
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
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| 34. |
- Smith, Jennifer A, et al.
(författare)
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Genome-wide association study identifies 74 loci associated with educational attainment
- 2016
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Ingår i: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 533:7604, s. 539-542
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Tidskriftsartikel (refereegranskat)abstract
- Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
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