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- Lumbers, R. T., et al.
(author)
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The genomics of heart failure: design and rationale of the HERMES consortium
- 2021
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In: Esc Heart Failure. - : Wiley. - 2055-5822. ; 8:6, s. 5531-5541
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Journal article (peer-reviewed)abstract
- Aims The HERMES (HEart failure Molecular Epidemiology for Therapeutic targets) consortium aims to identify the genomic and molecular basis of heart failure. Methods and results The consortium currently includes 51 studies from 11 countries, including 68 157 heart failure cases and 949 888 controls, with data on heart failure events and prognosis. All studies collected biological samples and performed genome-wide genotyping of common genetic variants. The enrolment of subjects into participating studies ranged from 1948 to the present day, and the median follow-up following heart failure diagnosis ranged from 2 to 116 months. Forty-nine of 51 individual studies enrolled participants of both sexes; in these studies, participants with heart failure were predominantly male (34-90%). The mean age at diagnosis or ascertainment across all studies ranged from 54 to 84 years. Based on the aggregate sample, we estimated 80% power to genetic variant associations with risk of heart failure with an odds ratio of >1.10 for common variants (allele frequency > 0.05) and >1.20 for low-frequency variants (allele frequency 0.01-0.05) at P < 5 x 10(-8) under an additive genetic model. Conclusions HERMES is a global collaboration aiming to (i) identify the genetic determinants of heart failure; (ii) generate insights into the causal pathways leading to heart failure and enable genetic approaches to target prioritization; and (iii) develop genomic tools for disease stratification and risk prediction.
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- Ashizawa, T., et al.
(author)
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Consensus-based care recommendations for adults with myotonic dystrophy type 1
- 2018
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In: Neurology-Clinical Practice. - : Ovid Technologies (Wolters Kluwer Health). - 2163-0402 .- 2163-0933. ; 8:6, s. 507-520
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Research review (peer-reviewed)abstract
- Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. Recent findings The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments.
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- Shah, S, et al.
(author)
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Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
- 2020
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1, s. 163-
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Journal article (peer-reviewed)abstract
- Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies.
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- Galle, Bo, 1952, et al.
(author)
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A multi-purpose, multi-rotor drone system for long-range and high-altitude volcanic gas plume measurements
- 2021
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In: Atmospheric Measurement Techniques. - : Copernicus GmbH. - 1867-1381 .- 1867-8548. ; 14:6, s. 4255-4277
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Journal article (peer-reviewed)abstract
- A multi-rotor drone has been adapted for studies of volcanic gas plumes. This adaptation includes improved capacity for high-altitude and long-range, real-time SO2 concentration monitoring, long-range manual control, remotely activated bag sampling and plume speed measurement capability. The drone is capable of acting as a stable platform for various instrument configurations, including multi-component gas analysis system (MultiGAS) instruments for in situ measurements of SO2, H2S, and CO2 concentrations in the gas plume and portable differential optical absorption spectrometer (MobileDOAS) instruments for spectroscopic measurement of total SO2 emission rate, remotely controlled gas sampling in bags and sampling with gas denuders for posterior analysis on the ground of isotopic composition and halogens. The platform we present was field-tested during three campaigns in Papua New Guinea: in 2016 at Tavurvur, Bagana and Ulawun volcanoes, in 2018 at Tavurvur and Langila volcanoes and in 2019 at Tavurvur and Manam volcanoes, as well as in Mt. Etna in Italy in 2017. This paper describes the drone platform and the multiple payloads, the various measurement strategies and an algorithm to correct for different response times of MultiGAS sensors. Specifically, we emphasize the need for an adaptive flight path, together with live data transmission of a plume tracer (such as SO2 concentration) to the ground station, to ensure optimal plume interception when operating beyond the visual line of sight. We present results from a comprehensive plume characterization obtained during a field deployment at Manam volcano in May 2019. The Papua New Guinea region, and particularly Manam volcano, has not been extensively studied for volcanic gases due to its remote location, inaccessible summit region and high level of volcanic activity. We demonstrate that the combination of a multi-rotor drone with modular payloads is a versatile solution to obtain the flux and composition of volcanic plumes, even for the case of a highly active volcano with a high-altitude plume such as Manam. Drone-based measurements offer a valuable solution to volcano research and monitoring applications and provide an alternativespan idCombining double low line"page4256"/> and complementary method to ground-based and direct sampling of volcanic gases.
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| 9. |
- Liu, E. J., et al.
(author)
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Aerial strategies advance volcanic gas measurements at inaccessible, strongly degassing volcanoes
- 2020
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In: Science advances. - : American Association for the Advancement of Science (AAAS). - 2375-2548. ; 6:44
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Journal article (peer-reviewed)abstract
- Volcanic emissions are a critical pathway in Earth's carbon cycle. Here, we show that aerial measurements of volcanic gases using unoccupied aerial systems (UAS) transform our ability to measure and monitor plumes remotely and to constrain global volatile fluxes from volcanoes. Combining multi-scale measurements from ground-based remote sensing, long-range aerial sampling, and satellites, we present comprehensive gas fluxes-3760 ± [600, 310] tons day-1 CO2 and 5150 ± [730, 340] tons day-1 SO2-for a strong yet previously uncharacterized volcanic emitter: Manam, Papua New Guinea. The CO2/ST ratio of 1.07 ± 0.06 suggests a modest slab sediment contribution to the sub-arc mantle. We find that aerial strategies reduce uncertainties associated with ground-based remote sensing of SO2 flux and enable near-real-time measurements of plume chemistry and carbon isotope composition. Our data emphasize the need to account for time averaging of temporal variability in volcanic gas emissions in global flux estimates.
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- Niklaus, Frank, et al.
(author)
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Effects of bonding process parameters on wafer-to-wafer alignment accuracy in benzocyclobutene (BCB) dielectric wafer bonding
- 2005
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In: Materials, Technology and Reliability of Advanced Interconnects-2005. - WARRENDALE, PA : MATERIALS RESEARCH SOCIETY. - 1558998160 ; , s. 393-398
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Conference paper (peer-reviewed)abstract
- Wafer-level three-dimensional (3D) integration is an emerging technology to increase the performance and functionality of integrated circuits (ICs). Aligned wafer-to-wafer bonding with dielectric polymer layers (e.g., benzocyclobutene (BCB)) is a promising approach for manufacturing of 3D ICs, with minimum bonding impact on the wafer-to-wafer alignment accuracy essential. In this paper we investigate the effects of thermal and mechanical bonding parameters on the achievable post-bonding wafer-to-wafer alignment accuracy for polymer wafer bonding with 200 trim diameter wafers. Our baseline wafer bonding process with soft-baked BCB (similar to 35% cross-linked) has been modified to use partially cured (similar to 43% crosslinked) BCB. The partially cured BCB layer does not reflow during bonding, minimizing the impact of inhomogeneities in BCB reflow under compression and/or slight shear forces at the bonding interface. As a result, the non-uniformity of the BCB layer thickness after wafer bonding is less than 0.5% of the nominal layer thickness and the wafer shift relative to each other during the wafer bonding process is less than 1 mu m (average) for 200 mm diameter wafers. The critical adhesion energy of a bonded wafer pair with the partially cured BCB wafer bonding process is similar to that with soft-baked BCB.
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| 11. |
- Roselli, Carolina, et al.
(author)
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Multi-ethnic genome-wide association study for atrial fibrillation
- 2018
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 50:9, s. 1225-1233
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Journal article (peer-reviewed)abstract
- Atrial fibrillation (AF) affects more than 33 million individuals worldwide(1) and has a complex heritability(2). We conducted the largest meta-analysis of genome-wide association studies (GWAS) for AF to date, consisting of more than half a million individuals, including 65,446 with AF. In total, we identified 97 loci significantly associated with AF, including 67 that were novel in a combined-ancestry analysis, and 3 that were novel in a European-specific analysis. We sought to identify AF-associated genes at the GWAS loci by performing RNA-sequencing and expression quantitative trait locus analyses in 101 left atrial samples, the most relevant tissue for AF. We also performed transcriptome-wide analyses that identified 57 AF-associated genes, 42 of which overlap with GWAS loci. The identified loci implicate genes enriched within cardiac developmental, electrophysiological, contractile and structural pathways. These results extend our understanding of the biological pathways underlying AF and may facilitate the development of therapeutics for AF.
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| 14. |
- Fisher, Michael J., et al.
(author)
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Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1)
- 2021
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In: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 0001-6322 .- 1432-0533. ; 141:4, s. 605-617
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Journal article (peer-reviewed)abstract
- Low-grade gliomas (LGGs) are the most common childhood brain tumor in the general population and in individuals with the Neurofibromatosis type 1 (NF1) cancer predisposition syndrome. Surgical biopsy is rarely performed prior to treatment in the setting of NF1, resulting in a paucity of tumor genomic information. To define the molecular landscape of NF1-associated LGGs (NF1-LGG), we integrated clinical data, histological diagnoses, and multi-level genetic/genomic analyses on 70 individuals from 25 centers worldwide. Whereas, most tumors harbored bi-allelic NF1 inactivation as the only genetic abnormality, 11% had additional mutations. Moreover, tumors classified as non-pilocytic astrocytoma based on DNA methylation analysis were significantly more likely to harbor these additional mutations. The most common secondary alteration was FGFR1 mutation, which conferred an additional growth advantage in multiple complementary experimental murine Nf1 models. Taken together, this comprehensive characterization has important implications for the management of children with NF1-LGG, distinct from their sporadic counterparts.
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| 15. |
- Niklaus, Frank, et al.
(author)
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Adhesive wafer bonding using partially cured benzocyclobutene for three-dimensional integration
- 2006
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In: Journal of the Electrochemical Society. - : The Electrochemical Society. - 0013-4651 .- 1945-7111. ; 153:4, s. G291-G295
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Journal article (peer-reviewed)abstract
- Wafer-level three-dimensional integration (3D) is an emerging technology to increase the performance and functionality of integrated circuits (ICs), with adhesive wafer bonding a key step in one of the attractive technology platforms. In such an application, the dielectric adhesive layer needs to be very uniform, and precise wafer-to-wafer alignment accuracy (similar to 1 mu m) of the bonded wafers is required. In this paper we present a new adhesive wafer bonding process that involves partially curing (cross-linking) of the benzocyclobutene (BCB) coatings prior to bonding. The partially cured BCB layer essentially does not reflow during bonding, minimizing the impact of inhomogeneities in BCB reflow under compression and/or any shear forces at the bonding interface. The resultant nonuniformity of the BCB layer thickness after wafer bonding is less than 1% of the average layer thickness, and the wafers shift relative to each other during the wafer bonding process less than 1 mu m (average) for 200 mm diameter wafers. When bonding two silicon wafers using partially cured BCB, the critical adhesion energy is sufficiently high (>= 14 J/m(2)) for subsequent IC processing.
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| 16. |
- Niklaus, Frank, et al.
(author)
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Wafer-Level 3D Integration Technology Platforms for ICs and MEMS
- 2005
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In: TWENTY SECOND INTERNATIONAL VLSI MULTILEVEL INTERCONNECTION (VMIC). ; , s. 486-493
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Conference paper (other academic/artistic)abstract
- Wafer-level three-dimensional (3D) integration is an emerging technology to increase theperformance and functionality of integrated circuits (ICs) and microelectromechanical systems(MEMS). In ICs, wafer-level 3D integration based on wafer bonding offers the potential for a highdensity of micron-sized through-die vias necessary for highest performance memory stacks,microprocessors with large L2 caches and ASICs with large embedded memories. In MEMS devices,wafer-level 3D integration based on wafer bonding offers the potential for integrating highperformance transducer materials such as various monocrystalline semiconductor materials withelectronic circuits for arrayed, highly integrated sensor and actuator components. This invited paperpresents an overview of current wafer-level 3D integration platforms that use wafer bonding withpolymer adhesives for ICs and MEMS applications.
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| 18. |
- Weigel, T., et al.
(author)
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CS Freiburg : Coordinating Robots for Successful Soccer Playing
- 2002
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In: IEEE transactions on robotics and automation. - : IEEE. - 1042-296X. ; 18:5, s. 685-699
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Journal article (peer-reviewed)abstract
- Robotic soccer is a challenging research domain because many different research areas have to be addressed in order to create a successful team of robot players. This paper presents the CS Freiburg team, the winner in the middle size league at RoboCup 1998, 2000 and 2001. The paper focuses on multi-agent coordination for both perception and action. The contributions of this work are new methods for tracking ball and players observed by multiple robots, team coordination methods for strategic team formation and dynamic role assignment, a rich set of basic skills allowing to respond to large range of situations in an appropriate way, an action selection method based on behavior networks as well as a method to learn the skills and their selection. As demonstrated by evaluations of the different methods and by the success of the team, these methods permit the creation of a multi-robot group, which is able to play soccer successfully. In addition, the developed methods promise to advance the state of the art in the multi-robot field.
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| 19. |
- Weigel, T., et al.
(author)
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CS Freiburg 2001
- 2001
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In: <em>RoboCup 2001 : Robot Soccer World Cup V</em>. ; , s. 26-38
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Conference paper (peer-reviewed)abstract
- The CS Freiburg team has become F2000 champion the third time in the history of RoboCup. The success of our team can probably be attributed to its robust sensor interpretation and its team play. In this paper, we will focus on new developments in our vision system, in our path planner, and in the cooperation component.
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