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At least 757 records · Page 42

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

Abstract Background Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo noncoding variation has been observable as a general increase in genetic burden but has yet to be resolved to individual functional elements. In this study, we assessed whole-genome sequencing data in 2671 families with autism (discovery cohort of 516 families, replication cohort of 2155 families). We focused on DNVs in enhancers with characterized in vivo activity in the brain and identified an excess of DNVs in an enhancer named hs737. Results We adapted the fitDNM statistical model to work in noncoding regions and tested enhancers for excess of DNVs in families with autism. We found only one enhancer (hs737) with nominal significance in the discovery (p = 0.0172), replication (p = 2.5 × 10 −3 ), and combined dataset (p = 1.1 × 10 −4 ). Each individual with a DNV in hs737 had shared phenotypes including being male, intact cognitive function, and hypotonia or motor delay. Our in vitro assessment of the DNVs showed they all reduce enhancer activity in a neuronal cell line. By epigenomic analyses, we found that hs737 is brain-specific and targets the transcription factor gene EBF3 in human fetal brain. EBF3 is genome-wide significant for coding DNVs in NDDs (missense p = 8.12 × 10 −35 , loss-of-function p = 2.26 × 10 −13 ) and is widely expressed in the body. Through characterization of promoters bound by EBF3 in neuronal cells, we saw enrichment for binding to NDD genes (p = 7.43 × 10 −6 , OR = 1.87) involved in gene regulation. Individuals with coding DNVs have greater phenotypic severity (hypotonia, ataxia, and delayed development syndrome [HADDS]) in comparison to individuals with noncoding DNVs that have autism and hypotonia. Conclusions In this study, we identify DNVs in the hs737 enhancer in individuals with autism. Through multiple approaches, we find hs737 targets the gene EBF3 that is genome-wide significant in NDDs. By assessment of noncoding variation and the genes they affect, we are beginning to understand their impact on gene regulatory networks in NDDs.

59 BASIC BIOLOGICAL SCIENCES↗

Multi-year assessment of the impact of ship-borne radiosonde observations on polar WRF forecasts in the Arctic

Abstract To compensate for the lack of conventional observations over the Arctic Ocean, ship-borne radiosonde observations have been regularly carried out during summer Arctic expeditions and the observed data have been broadcast via the global telecommunication system since 2017. With these data obtained over the data-sparse Arctic Ocean, observing system experiments were carried out using a polar-optimized version of the Weather Research and Forecasting (WRF) model and the WRF Data Assimilation (WRFDA) system to investigate their effects on analyses and forecasts over the Arctic. The results of verification against reanalysis data reveal: (1) DA effects on analyses and forecasts; (2) the reason for the year-to-year variability of DA effects; and (3) the possible role of upper-level potential vorticity in delayed DA effects. The overall assimilation effects of the extra data on the analyses and forecasts over the Arctic are positive. Initially, the DA effects are the most apparent in the temperature variables in the middle/lower troposphere, which spread to the wind variables in the upper troposphere. The effects decrease with time but reappear after approximately 120 h, even in the 240-h forecasts. The effects on forecasts vary depending on the proximity of the radiosonde observation locations to the high synoptic variability. The upper-level potential vorticity is known to play an important role in the development of Arctic cyclones, and it is suggested as a possible explanation for the delayed DA effects after about 120 h.

Geology↗

Dual-Fuel Ammonia Equivalence Ratio Sweep Data

Ammonia (NH3) has garnered significant interest as an alternative fuel for meeting international emissions reduction mandates in sectors with high weight and distance requirements, such as shipping. Technical barriers and unanswered questions remain on the combustion strategies that can maximize ammonia utilization and minimize emissions. Prior research studies at the US Department of Energy’s Oak Ridge National Laboratory have shown strong performance with NH3 under dual-fuel mode using conventional diesel combustion (CDC) manifold air pressure settings. Diesel airflow was initially used to simplify retrofitting (no turbocharger modification), which resulted in air-fuel equivalence ratios (λ) greater than 1.5. To characterize potential improvements in dual-fuel NH3 combustion performance at richer in-cylinder conditions, a global λ sweep compared the use of early (E-pilot) and late (L-pilot) single diesel injections. The experiments were conducted at 1200 RPM and 12.8 ± 0.2 bar (75 % load), and λ was varied by decreasing the commanded air flow to the engine at greater than 90 % ammonia energy substitution level. A diesel injection timing sweep was conducted for both the injection strategies at fixed λ, and the timing with the lowest engine-out N2O emissions was identified. The results indicated an optimal balance between CO2,eq and thermal efficiency benefits both E-pilot and L-pilot injection strategy cases compared with CDC at a λ of 1.4. The indicated nitrogen-based emissions exhibited a strong correlation to the ratio of CA5–50 and ignition delay for L-pilot, but no apparent trend emerged for the E-pilot injection strategy at the tested boundary conditions. This dataset includes the raw experimental data and documentation of the experiment conditions and methods.

30 DIRECT ENERGY CONVERSION↗

Microreactor Automated Control System Test Bed Digital Architecture for Real-Time, Hardware-in-the-Loop Simulation

This work describes progress made towards the development of a real-time hardware-in-the-loop (HIL) test bed for non-nuclear testing of microreactor control schemes and failure modes. Non-nuclear testing is a crucial step in developing robust control algorithms for managing microreactor dynamics. The creation of an HIL simulation harnesses the realistic dynamics of physical analogue systems while additionally considering the challenges of variable communication delay. This collaborative effort between Oak Ridge National Laboratory and Idaho National Laboratory has resulted in a LabVIEW-based gRPC communication protocol which couples a TRANSFORM Modelica simulation of nuclear components to the ViBRANT physical hardware for realistic feedback and visual representation of control action in real time. A modular python client structure is developed to manage FMU-based Modelica simulation and real-time gRPC communication. HIL testing suggests that the modeled reactor with natural convection molten salt loop coolant configuration responds well to PID control of drum positioning for modulation of reactor core power, however, future efforts will be made to explore the added thermal inertial delay of system level control and downstream demand changes. Development of this platform with a generalized methodology provides a foundation for exploring a variety of reactor configurations and failure modes in rapid order to provide insight into the most effective avenues of study for further research and development.

McConnell, Jono [ORNL] (ORCID:0000000238984741)↗

Toward lower-diameter large-scale HPC and data center networks with co-packaged optics

We investigate the advantages of using co-packaged optics for building low-diameter, large-scale high-performance computing (HPC) and data center networks. The increased escape bandwidth offered by co-packaged optics can enable high-radix switch implementations of more than 150 switch ports, which can be combined with data rates of up to 400 Gb/s per port. From the network architecture perspective, the key benefits of using co-packaged optics in future fat-tree networks include (a) the ability to implement large-scale topologies of > <#comment/> 11 , 000 end points by eliminating the need for a third switching layer and (b) the ability to provide up to 4 × <#comment/> higher bisection bandwidth compared to existing solutions, reducing at the same time the number of required switch application-specific integrated circuits by > <#comment/> 80 % <#comment/> . From the network operation perspective, both reduced energy consumption and lower packet delays can be achieved since fewer hops are required; i.e., packets need to traverse fewer serializer/deserializer lanes and fewer switch buffers, which reduces the probability of contending with other packets and improves the tolerance of network congestion. The performance of the proposed architecture is evaluated via discrete-event simulations for a wide range of representative HPC synthetic-traffic cases that include both hotspot and non-hotspot scenarios. The simulation results suggest that co-packaged optics form a promising solution to keep up with bandwidth scaling in future networks, while the reduced number of switching layers can lead to significant mean packet delay improvements that start from 30% and reach up to 74% for high-load conditions.

Maniotis, Pavlos (ORCID:0000000244905253)↗

Lifetime-resolved photon-correlation Fourier spectroscopy

The excited state population of single solid-state emitters is subjected to energy fluctuations around the equilibrium driven by the bath and relaxation through the emission of phonons or photons. Simultaneous measurement of the associated spectral dynamics requires a technique with a high spectral and temporal resolution with an additionally high temporal dynamic range. We propose a pulsed excitation-laser analog of photon-correlation Fourier spectroscopy (PCFS), which extracts the linewidth and spectral diffusion dynamics along the emission lifetime trajectory of the emitter, effectively discriminating spectral dynamics from relaxation and bath fluctuations . This lifetime-resolved PCFS correlates photon-pairs at the output arm of a Michelson interferometer in both their time-delay between laser-excitation and photon-detection T and the time-delay between two photons τ . We propose the utility of the technique for systems with changing relative contributions to the emission from multiple states, for example, quantum emitters exhibiting phonon-mediated exchange between different fine-structure states.

36 MATERIALS SCIENCE↗

Single-shot, double-pulse determination of the detonation energy in nanosecond-laser ablation using the blast model

We demonstrate a novel single-shot method to determine the detonation energy of laser-induced plasma and investigate its performance. This approach can be used in cases where there are significant shot-to-shot variations in ablation conditions, such as laser fluctuations, target inhomogeneity, or multiple filamentation with ultrashort pulses. The Sedov blast model is used to fit two time-delayed shadowgrams measured with a double-pulse laser. We find that the reconstruction of detonation parameters is insensitive to the choice of interpulse delay in double-pulse shadowgraphy. In contrast, the initial assumption of expansion dimensionality has a large impact on the reconstructed detonation energy. The method allows for a reduction in the uncertainties of blast wave energy measurements as a diagnostic technique employed in various laser ablation applications.

42 ENGINEERING↗

Programmable-trajectory ultrafast flying focus pulses

“Flying focus” techniques produce laser pulses with dynamic focal points that travel distances much greater than a Rayleigh length. The implementation of these techniques in laser-based applications requires the design of optical configurations that can both extend the focal range and structure the radial group delay. This article describes a method for designing optical configurations that produce ultrashort flying focus pulses with programmable-trajectory focal points. The method is illustrated by several examples that employ an axiparabola for extending the focal range and either a reflective echelon or a deformable mirror-spatial light modulator pair for structuring the radial group delay. The latter configuration enables rapid exploration and optimization of flying foci, which could be ideal for experiments.

47 OTHER INSTRUMENTATION↗

Using double pulse laser ablation in air to enhance the strength of laser-driven shocks

In the process of multi-pulse laser ablation, inter-pulse delay time, Δ t , is known to be an important parameter for maximizing ablation efficiency as well as impulse imparted to the target. In this work, using photon Doppler velocimetry, we show that for single pairs of colinear pulses (1064 nm, 8 ns, ∼ 60 J cm -2 per pulse) in air, the peak free surface velocity of the back surface of an aluminum target (125 µm thick) is increased, by a factor of nearly 3, when Δ t = 10 microseconds, compared with both pulses arriving simultaneously (Δ t = 0). Fast imaging of the ablation process suggests this enhancement is due to rarefaction of the contiguous air in the passage of the leading shock produced by ablation, which then in turn allows a larger fraction of the energy of the second pulse to reach the target surface. This interpretation is strengthened by additional experiments in which the two pulses do not overlap on the target surface, but the shock strength is nevertheless enhanced. Given a fixed energy budget this work suggests a prescription for maximizing laser-driven shock strength by judicious choice of inter-pulse delay.

75 CONDENSED MATTER PHYSICS, SUPERCONDUCTIVITY AND↗

High-energy X-ray radiography with apodized petawatt laser beams

We have produced laser wakefield-accelerated electron beams with energies of 2 GeV in Target Area 1 of the ZEUS facility. These electron beams oscillate in the accelerating structure that is produced in the wake of an ultrashort laser pulse (25 fs). These ’betatron’ oscillations result in the emission of a collimated (4 mrad divergence) beam of high-energy X-ray/gamma photons (on the order of several hundred keV). In this work, we demonstrate the capabilities of the ZEUS laser system by showing that apodizing the laser beam in the near field allows for the production of high-quality betatron X-rays for radiography purposes. This demonstrates that a high-power, large-aperture laser beam could be split into multiple parts to drive betatron X-ray sources from multiple angles or temporal delays into a High Energy Density (HED) target to be probed, enabling pump-probe measurements at multiple temporal delays or tomography on a single shot.

70 PLASMA PHYSICS AND FUSION TECHNOLOGY↗

Dynamics of electronic excitations involved in laser-induced damage in HfO 2 and SiO 2 films

The dynamics of electron excitations associated with the initiation of laser-induced damage in hafnia and silica monolayer films are investigated using time-resolved damage testing involving a pair of 0.7 ps pulses with adjustable delay and laser pulse fluences. Results in hafnia indicate that the relaxation profile depends on the pump-pulse fluence (initial excitation) and as a result, it exhibits an effective lifetime that is variable. Lastly, analogous experiments in silica form two different types of damage morphologies that are observed on different ranges of delay times.

36 MATERIALS SCIENCE↗

Economic Impact of Permitting Timelines on Produced Geothermal Power

Despite having a large geothermal power potential in the United States, only a small fraction has been developed for power generation. Various barriers, including technical, financial, and regulatory permit delays, are attributed to lower contribution of geothermal energy in the national grid. Unpredictable environmental reviews and permitting timelines are some of the non-technical barriers that can cause delays in geothermal exploration and utilization plans. This study shows that the geothermal permitting timelines can vary from six months to several years, depending on the presence or absence of biological resources, cultural resources, and sensitive environmental issues at the project site. The potential impacts of these permit barriers can range from investors abandoning geothermal development to making the product (i.e., electricity) more expensive and uncompetitive.

15 GEOTHERMAL ENERGY↗

Limited Dynamic Earthquake Triggering in Nevada

Dynamic triggering occurs when seismic waves from distant large earthquakes temporarily alter stress conditions along faults, potentially triggering new earthquakes hundreds to thousands of kilometers away from the source. Previous studies have linked triggered seismicity to anthropogenic activities such as geothermal, oil, and gas production. Although these activities are present in Nevada, little work has been conducted to explore dynamically triggered seismicity in Nevada. Here, we analyze a newly published, high-resolution earthquake catalog for Nevada to identify local seismicity dynamically triggered by teleseismic events (Mw≥7) from 2008 to 2023. We identify 94 dynamically triggered earthquakes concentrated in four distinct regions, which qualitatively show a modest positive correlation with geothermal well locations. Triggered seismicity in Nevada is predominantly delayed, with some instantaneously triggered by Rayleigh waves. The prevalence of delayed triggering indicates that pore fluid interactions may play a critical role in controlling dynamic triggering susceptibility in Nevada. Our results demonstrate that dynamic triggering can provide valuable insight to help identify critically stressed regions.

58 GEOSCIENCES↗

Variable Daily Autocorrelation Functions of High-Frequency Seismic Data on Mars

Abstract High-frequency seismic data on Mars are dominated by wind-generated lander vibrations, which are radiated partially to the subsurface. Autocorrelation functions (ACFs) of seismic data on Mars filtered between 1 and 5 Hz show clear phases at ∼1.3, ∼2.6, and ∼3.9 s. Daily temporal changes of their arrival times (dt/t) correlate well with the daily changes of ground temperature, with ∼5% daily variation and ∼50 min apparent phase delay. The following two mechanisms could explain the observations: (1) the interference of two predominant spectral peaks at ∼3.3 and ∼4.1 Hz, assumed to be both lander resonance modes, generate the apparent arrivals in the ACFs; (2) the interference of the lander vibration and its reflection from an interface ∼200 m below the lander generate the 3.3 Hz spectral peak and ∼1.3 s arrival in the ACFs. The driving mechanism of the resolved dt/t that most likely explains the ∼50 min delay is thermoelastic strain at a near-surface layer, affecting the lander–ground coupling and subsurface structures. The two outlined mechanisms suggest, respectively, up to ∼10% changes in ground stiffness at 1–5 Hz and ∼15% velocity changes in the top ∼20 m layer. These are upper bound values considering also other possible contributions. The presented methodology and results contribute to analysis of ACFs with limited data and the understanding of subsurface materials on Mars.

Geochemistry & Geophysics↗

Fermilab's controls development with virtual accelerator

Control Systems development is often the last thing considered when designing and building new equipment, e.g. a new detector or superconducting RF LINAC; however when the new equipment is installed, it is the first thing desired to be operational for testing. Due to frequent delays in building new equipment and project deadlines, control system development and testing is often curtailed. A way to alleviate this problem is to simulate the control system, though this will be challenging for complex systems.The Fermilab PIP-II (proton improvement plan - II) project is being constructed at Fermilab to deliver $800\,MeV$ protons of $>1\,MW$ beam power to replace the present LINAC for the remainder of the existing accelerator complex. The new LINAC consists of a warm front end (WFE), 23 superconducting RF cryomodules (of 5 types), and a beam transfer line (BTL) to the existing complex.The accelerator physics group has a parallel project to create a digital twin (DT) of the PIP-II accelerator. We have coupled the EPICS controls to this DT and are developing both the DT and EPICS software in parallel. This will allow us to develop the EPICS software framework, the HMIs, sequences, high level physics applications, and other services for use in a fully functional control system.This presentation will detail the work that we have performed to date and show demonstrations of controlling and monitoring the status of the accelerator, as well as future plans for this work.

Hanlet, Pierrick [Fermilab]↗

Undulator radiation of single electrons: coherence length and quantum-optical properties

The aims of the CLARA experiment at the Fermilab Integrable Optics Test Accelerator (IOTA) were to directly measure the coherence length of undulator radiation emitted by a single electron and to test whether the radiation is in a pure classical Glauber coherent state or in a quantum mixture of coherent and Fock states. We used a Mach-Zehnder interferometer (MZI) to study visible radiation generated by 150-MeV electrons circulating in the ring. The relative delay between the two arms of the MZI was adjusted by varying the length of one of them with a resolution of 10 nm. The intensity of the circulating beam spanned several orders of magnitude, down to single electrons. A pair of single-photon avalanche diodes (SPADs) was placed at the output of the MZI arms to detect photocounts with high efficiency and timing resolution. We describe the observed interference patterns and photocount rates as a function of interferometer delay and discuss their implications.

43 PARTICLE ACCELERATORS↗

Understanding the Costs and Barriers of Residential Electrical Panel and Service Upgrades

Upgrading electrical panels and services in U.S. homes represents a significant barrier to building modernization, imposing considerable costs, delays, and procedural uncertainties on homeowners, contractors, utilities, and building departments. Although cost databases document individual infrastructure activities, they rarely capture the integrated, whole-project perspective required to understand how electrical upgrades are planned, executed, and regulated. Existing research is often geographically constrained, narrowly scoped, or derived from limited samples, leaving significant knowledge gaps unaddressed. This study examines the timelines and costs associated with residential electrical panel and service upgrades using data from a national cross- sectional survey conducted in summer 2025. The survey captured responses from 140 stakeholders across 34 states, including building industry professionals, utility staff, and building department staff. Findings indicate that project duration and cost increase substantially with building size though patterns vary by infrastructure type. Most single-family and small multifamily projects were completed within 30 days, whereas medium and large multifamily buildings show longer and less predictable timelines. Service rating increases modestly extend project duration, but building type and size were the primary determinants of delays. Cost patterns were similar: customer-side equipment and panel replacements scale predictably with building size, while utility-side costs are highly variable, often triggered by threshold-driven infrastructure upgrades such as transformer replacements. Permit fees vary considerably between jurisdictions but generally represent a minor proportion of total project costs. These findings identify electrical upgrades as a significant barrier to residential building costs and highlight the need for improved stakeholder coordination, streamlined permitting, and strategies that reduce upgrade requirements while maintaining safety and code compliance.

Casquero-Modrego, Nuria↗

Determination of Ground Subsidence Around Snow Fences in the Arctic Region

In this study, we analyzed the effects of snow cover changes caused by snow fences (SFs) installed in 2017 in the Alaskan tundra to examine ground subsidence. Digital surface model data obtained through LiDAR-based remote sensing in 2019 and 2022, combined with a field survey in 2021, revealed approximately 0.2 m of ground subsidence around the SF. To investigate the relationship between SF-induced snow cover changes and ground subsidence, geophysical methods, electrical resistivity tomography (ERT) and ground-penetrating radar (GPR), were applied in 2023 to analyze subsurface characteristics. The increased snow cover due to the SF-enhanced insulation, delaying the penetration of winter cold into the subsurface. This delay caused subsurface temperatures to decrease more slowly, melting the upper permafrost and increasing the thickness of the active layer. ERT and GPR surveys well delineated the boundary between the active layer and permafrost, confirming that the increased snow cover thickened the active layer. This thickening led to the melting of pore ice, causing water runoff and ground compaction, which resulted in subsidence. The runoff also formed channels flowing eastward over the SF. This study highlights how changes in snow cover can influence active layer properties, leading to localized environmental changes and ground subsidence.

54 ENVIRONMENTAL SCIENCES↗