Abstract
The Exa.TrkX project presents a graph neural network (GNN) technique for low-level reconstruction of neutrino interactions in a Liquid Argon Time Projection Chamber (LArTPC). GNNs are still ...a relatively novel technique, and have shown great promise for similar reconstruction tasks in the Large Hadron Collider (LHC). Graphs describing particle interactions are formed by treating each detector hit as a node, with edges describing the relationships between hits. We utilise a multi-head attention message passing network which performs graph convolutions in order to label each node with a particle type.
We present an updated variant of our GNN architecture, with several improvements. After testing the model on more realistic simulation with regions of unresponsive wires, the target was modified from edge classification to node classification in order to increase robustness. Removing edges as a classification target opens up a broader possibility space for edge-forming techniques; we explore the model’s performance across a variety of approaches, such as Delaunay triangulation, kNN, and radius-based methods. We also extend this model to the 3D context, sharing information between detector views. By using reconstructed 3D spacepoints to map detector hits from each wire plane, the model naively constructs 2D representations that are independent yet fully consistent.
Purpose
Germline variants in known breast cancer (BC) predisposing genes explain less than half of hereditary BC cases. This study aimed to identify missing genetic determinants of BC.
Methods
Whole ...exome sequencing (WES) of lymphocyte DNA was performed for 49 Russian patients with clinical signs of genetic BC predisposition, who lacked Slavic founder mutations in
BRCA1, BRCA2, CHEK2
, and
NBS1
genes.
Results
Bioinformatic analysis of WES data was allowed to compile a list of 229 candidate mutations. 79 of these mutations were subjected to a three-stage case–control analysis. The initial two stages, which involved up to 797 high-risk BC patients, 1504 consecutive BC cases, and 1081 healthy women, indicated a potentially BC-predisposing role for 6 candidates, i.e.,
USP39
c.*208G > C,
PZP
p.Arg680Ter,
LEPREL1
p.Pro636Ser,
SLIT3
p.Arg154Cys,
CREB3
p.Lys157Glu, and
ING1
p.Pro319Leu.
USP39
c.*208G > C was strongly associated with triple-negative breast tumors (
p
= 0.0001). In the third replication stage, we genotyped the truncating variant of
PZP
(rs145240281) and the potential splice variant of
USP39
(rs112653307) in three independent cohorts of Russian, Byelorussian, and German ancestry, comprising a total of 3216 cases and 2525 controls. The data obtained for
USP39
rs112653307 supported the association identified in the initial stages (the combined OR 1.72,
p
= 0.035).
Conclusions
This study suggests the role of a rare splicing variant in
BC
susceptibility.
USP39
encodes an ubiquitin-specific peptidase that regulates cancer-relevant tumor suppressors including CHEK2. Further epidemiological and functional studies involving these gene variants are warranted.
This paper describes a system for multi‐position Doppler ionosphere sounding implemented at the beginning of 2018 in the Kharkiv region of Ukraine, the data processing technique and initial results ...of data analysis. The system comprises a high frequency (HF) transmitter and three receiving sites making almost a right triangle with catheti of 32.8 and 58 km. The transmitter continuously emitting a monochromatic signal of a ∼20 W power at a frequency in most cases slightly lower than foF2 is located in the city of Kharkiv. The foF2 value was permanently controlled by the ionosonde installed in about 45 km from the transmitter. We report and discuss the initial results of traveling ionospheric disturbances (TIDs) observations for three years since January 2018 until December 2020. Statistical distributions of the frequency of appearance, periods, horizontal speeds, and propagation directions of TIDs are presented. The range of their most probable wavelengths is from 120 to 260 km, while their propagation velocities are from 80 to 220 m/s. The preferred direction of the TID propagation changes during the daytime and shows a tendency to rotate clockwise in azimuth. Notably, such regular long‐term measurements in the Eastern Europe have been carried out for the first time.
Key Points
We describe a novel multi‐position high frequency Doppler facility in Ukraine and data processing technique capable of exploring the traveling ionospheric disturbances (TID) parameters
Variations of the Doppler frequency shift from each of three sites revealed the salient TID characteristics in several case studies
Statistical distributions of the appearance frequency, periods, horizontal speeds, and directions of TIDs during a few years are presented
Exomes of 27 Russian subjects were analyzed for the presence of medically relevant alleles, such as protein-truncating variants (PTVs) in known recessive disease-associated genes and pathogenic ...missense mutations included in the ClinVar database. 36 variants (24 PTVs and 12 amino acid substitutions) were identified and then subjected to the analysis in 897 population controls. 9/36 mutations were novel, however only two of them (POLH c.490delG associated with xeroderma pigmentosum variant (XPV) and CATSPER1 c.859_860delCA responsible for spermatogenic failure) were shown to be recurrent. 27 out of 36 pathogenic alleles were already described in prior genetic studies; seven of them occurred only in the index cases, while 20 demonstrated evidence for persistence in Russian population. In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N). These data deserve to be considered in future medical genetic activities.
Analysis of the capabilities of the State Corporation Rosatom enterprises on the development and production of diagnostic and therapeutic equipment for nuclear medicine centers is presented. ...Prospects of the development of accelerator equipment for the production of a wide range of radioisotope products are shown, and the trends of its development are determined. A comparative analysis of the technical parameters of domestic tomographs and devices for brachytherapy with foreign counterparts is given.
This work emphasizes the importance of the fact, that plasma concentration profiles of one- and two-compartment linear pharmacokinetic (PK) models with first-order absorption introduce an uncertainty ...in data interpretation. PK-curve fitting results in a pair of valid solutions (coupled solutions), for which the derived PK parameters (such as AUC, MRT, Cmax, tmax, initial and terminal slope) are identical. Therefore, to make a proper choice of PK parameters of the drug in question, more information has to be considered, for example, which one of the solutions is more correlated with corresponding data, observed after iv administration. Comparison of different types of PK models and discussion on the transitions between the coupled solutions was carried out using a novel symbolic notation to provide more clarity and to simplify parameter indexing. Presented results were obtained by combined means of the method of statistic moments, Laplace transform and illustrated by the numerical experiment.
A new approach to analyze the nuclear gamma resonance (NGR) spectra is presented and justified in the paper. The algorithm successively spots the Lorentz lines in the experimental spectrum by a ...certain optimization procedures. In Mössbauer spectroscopy, the primary analysis is based on the representation of the transmission integral of an experimental spectrum by the sum of Lorentzians. In the general case, a number of lines and values of parameters in Lorentzians are unknown. The problem is to find them. In practice, before the experimental data processing, one elaborates a model of the Mössbauer spectrum. Such a model is usually based on some additional information. Taking into account physical restrictions, one forms the shape of the lines which are close to the normalized experimental Mössbauer spectrum. This is done by choosing the remaining free parameters of the model. However, this approach does not guarantee a proper model. A reasonable way to construct a structural NGR spectrum decomposition should be based on its model-free analysis. Some model-free methods of the NGR spectra analysis have been implemented in a number of known algorithms. Each of these methods is useful but has a limited range of application. In fact, the previously known algorithms did not react to hardly noticeable primary features of the experimental spectrum, but identify the dominant components only. In the proposed approach, the difference between the experimental spectrum and the known already determined part of the spectral structure defines the next Lorentzian. This method is effective for isolation of fine details of the spectrum, although it requires a well-elaborated algorithmic procedure presented in this paper.
Among the processes that form properties of the geospace in the circumterrestrial plasma the electromagnetic resonances of the Earth, such as Schummann Resonance (SR) and Ionospheric Alfvén Resonance ...(IAR) are of great importance. IAR is more localized in space than SR and its properties largely depend on the characteristics of the propagation medium. In contrast to the SR, which has global nature and which is continuously observable at any time of the day, IAR signals are registered mostly during the nighttime and demonstrate more variability of the parameters than SR signals. At the Earth surface IAR is registered as Spectral Resonance Structure of the natural electromagnetic noise at frequency range 0.1-40 Hz. In this work we studied an influence of the environment characteristics on IAR parameters by the means of multipoint observations. Annual data series recorded at Ukrainian Antarctic Station 'Akademik Vernadsky', Low Frequency Observatory of the Institute of Radio Astronomy near Kharkov (Ukraine) and magnetic station of Sayan Solar Observatory Mondy near Irkutsk (Russia) were used for the analysis. We investigated the behaviour of IAR parameters, such as probability of resonance lines registration and frequency spacing $\Delta F$, for annual and diurnal intervals. These parameters were compared with characteristics of the ionosphere above all of the observation points and geomagnetic activity.
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