Bayesian Inference of GNSS Failures

International audienceThe probability of failure (failure rate) is a key input parameter to integrity monitoring systems used for safety, liability or mission critical applications. A standard approach in the design of Global Positioning System (GPS) integrity monitoring is to utilize the service commitment on the probability of major service failure, often by applying a conservative factor. This paper addresses the question of what factor is appropriate by applying Bayesian inference to real and hypothetical fault histories. Global Navigation Satellite System (GNSS) anomalies include clock or signal transmission type faults which are punctual (may occur at any time) and incorrect ephemeris data which are broadcast for a nominal two hours. These two types of anomaly, classified as continuous and discrete respectively are addressed. Bounds on the total probability of failure are obtained with given confidence levels subject to well defined hypotheses relating past to future performance. Factors for the GPS service commitment of 10-5 per hour per satellite are obtained within the range two to five with high confidence (up to 1-10-9)

Interface air pour systèmes de navigation en bande S : étude détaillée des signaux OFDM

Positioning in urban or indoor environment is a hot topic, either due to regulations such as the E911 requiring US mobile telecommunication operators to be able to locate their subscribers in case of emergency, or due to the market development, with the extension of location - based services targeting the mass market concentrated in metropolitan areas. In urban or indoor areas, it is generally recognized that satellite - based positioning systems are not suitable (alone) to provide a continuous, reliable and accurate position to the user. Therefore, alternative positioning techniques may be useful to complement or replace satellite positioning in these environments. This PhD study ha s studied the possibility of using a mobile TV system based on the DVB - SH standard as system of opportunity for positioning. The advantage s of using a DVB - SH system for positioning are multiple. First, such system has a good availability in metropolitan areas, including indoor. Secondly, the emitters are synchronized and their density should be sufficient to track signals from several emitters simultaneously. This opens the possibility of using timing measurements from several emitters to find a position by trilateration . Also, the large bandwidth of the TV signal, required for the transmission of video content, should be beneficial for the accuracy of the timing measurements and for the robustness against multipath . Therefore, DVB - SH system seems to be an interesting candidate as system of opportunity for positioning. However, several challenges are to be solved for such a solution to be relevant. First, the signals propagate in the urban environment, which creates challenging conditions for positioning su ch as strong power fading, blockage of the desired line - of - sight signal or large echoes. Secondly, the DVB - SH standard uses an OFDM modulation, which has not been studied for positioning purpose. Therefore, techniques for fine tracking of the first receive d signal replica will have to be developed. Finally, a particularity of modern broadcast system is the use of a Single Frequency Network, in which all emitters send the same signal on the same carrier frequency. Therefore emitter identification in a Single Frequency will be another issue to be solved. This PhD study has proved the feasibility of positioning using DVB - SH signals. The main contributions of this work are the propositions of (1) an OFDM signal delay tracking method working in urban propagation channels, and (2) a modification to the network deployment permitting emitter identification and (3) a first assessment of the position accuracy using the proposed algorithms. These two methods have very low impact on the initial TV broadcasting service if the right set of signal parameters is chosen: no signal modification is required and the network deployment modification uses a feature already present in the DVB - SH standard. The positioning method was simulated using real urban propagation channel measurements. The obtained position has root mean square error of 4 0m. The main error contribution comes from tracking a non - line - of - sight signal. Further work would be required to deal with this issue, which would lower the position root mean square error to 7 m, which has been locally observed in the simulation for good tracking conditionsLe positionnement en environnement urbain est un domaine de recherche actif, de par la croissance des services grand public liées à la localisation, et à cause de réglementations émergentes liées aux situations d'urgence (E911). En environnement urbain ou à l'intérieur des bâtiments, il est communément admis que les systèmes de positionnement basés sur des satellites ne sont pas suffisants pour fournir une position précise, fiable et de manière continue. Des techniques de positionnement alternatives sont donc développées afin de remplacer ou compléter les systèmes de positionnement par satellite. Cette thèse étudie la possibilité de fournir un service de positionnement utilisant un futur système de diffusion de télévison vers les mobiles basé sur le standard DVB-SH. Le principal attrait de ce système pour du positionnement est sa bonne couverture en milieu urbain, ainsi que l'utilisation d'un réseau d'émetteurs synchronisés. Il est donc possible d'employer des mesures de temps d'arrivée des signaux afin de réaliser une triangulation pour calculer la position d'un récepteur. Afin de fournir ce service innovant, des techniques spécifiques d'estimation de pseudo-distance et d'identification d'émetteurs ont été développées dans le cadre de cette thèse. Le principal résultat de cette étude est d'avoir montré la faisabilité du positionnement utilisant un système DVB-SH, ne nécessitant que de légères modifications du système qui n'apportent aucune dégradation auservice de diffusion TV. De premières simulations ont montré une précision de positionnement autour de 40m en utilisant des mesures réalistes de canal de propagation urbain

Processed 5G Signals Mathematical Models for Positioning considering a Non-Constant Propagation Channel

International audienceThe objective of this paper is to determine the ranging performance of the upcoming fifth generation (5G) signal. In order to do so, it is required to define 5G correlator outputs mathematical models. 5G systems will use OFDM (Orthogonal Frequency Division Multiplexing) signals; in the literature, mathematical models of OFDM signals are developed at the different receiver signal processing stages. These models assumed that the propagation channel is constant over an OFDM symbol; nevertheless, an in-depth study of QuaDRiGa, a 5G compliant propagation channel simulator, invalidates this hypothesis. Therefore, in this paper, mathematical models are developed that take into account the channel evolution. The focus is given on correlator outputs and results are applied to the computation of 5G based pseudo range accuracy

Signal Quality Monitoring Design for Galileo E5a and Galileo E1C signals

International audienceGalileo E1C, the pilot component of the E1 Open Service signal (CBOC(6,1,1/11) modulation), Galileo E5a and GPS L5 (BPSK(10) modulation) are signals that will be used by civil aviation receivers for pseudorange computation. To meet stringent requirements defined for civil aviation GNSS receivers, the characterization of distortions which could affect a GNSS signal in a hazardous way is required. In particular, expected signal distortions generated at payload level are described by Threat Models (TMs). Distortions incorporated in the TM are also called Evil WaveForm (EWF).These TMs, and their associated parameter ranges, referred to as Threat Space (TS), are powerful and necessary tools to design and test the performance of Signal Quality Monitor (SQM). The SQM is a mean to detect the presence of dangerous signal distortions and is necessary to protect users with high requirements in terms of integrity, accuracy, availability, and continuity (for example civil aviation users). Nowadays, this monitoring task is performed by GBAS and SBAS reference stations for GPS L1 C/A to warn the user in a timely manner. In this paper, SQMs for Galileo E1C and Galileo E5a will be designed and compared using a new representation introduced in [1]. Using this representation, different SQMs are compared and an optimized SQM is proposed to monitor signal distortions on Galileo E5a and Galileo E1C signals

Signal Quality Monitoring for New GNSS Signals

International audienceIn the context of GNSS signals and associated augmentation systems modernization, new modulations are envisaged. More precisely Galileo E1C, the pilot component of the E1 Open Service signal (CBOC(6,1,1/11) modulation), Galileo E5a and GPS L5 (BPSK(10) modulation) are signals that will be used by civil aviation airborne receivers for pseudorange computation. To meet stringent requirements defined for civil aviation GNSS receivers, the characterization of distortions which could affect a GNSS signal in a hazardous way is required. In particular, expected signal distortions generated at payload level are described by Threat Models (TM). Distortions incorporate in the TM are also called Evil Waveform (EWF). These TMs, and their associated parameter ranges, referred to as Threat Space (TS) are powerful and necessary tools to design and test the performance of Signal Quality Monitor (SQM). The SQM is a mean to detect the presence of dangerous signal distortions and is necessary to protect users with high requirements in terms of integrity, accuracy, availability, and continuity (for example civil aviation users). Nowadays, this monitoring task is performed by GBAS and SBAS reference station for GPS L1 C/A to warn the user in a timely manner. In this paper SQMs for Galileo E1C and Galileo E5a will be designed and compared by mean of an innovative representation inspired from [1]. From this representation, SQM performance is assessed based on the highest differential tracking error entailed by a signal distortion included in the TM and not detected by the SQM within allocated Pfa and Pmd.. It is noteworthy that performance of SQM is dependent on several parameters and in particular on the C/N0 at which the reference station is operating. One of the advantage of the proposed representation is that performances of the SQM can be assessed for different equivalent C/N0 from one figure. Using this representation, different SQMs are compared and an optimized SQM is proposed to monitor signal distortions on Galileo E5a and Galileo E1C signals

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects. Detailed phenotypic analysis of all patients was undertaken. All 12 patients had de novo heterozygous PUF60 variants on exome analysis, each confirmed by Sanger sequencing: four frameshift variants resulting in premature stop codons, three missense variants that clustered within the RNA recognition motif of PUF60 and five essential splice-site (ESS) variant. Analysis of cDNA from a fibroblast cell line derived from one of the patients with an ESS variants revealed aberrant splicing. The consistent feature was developmental delay and most patients had short stature. The phenotypic variability was striking; however, we observed similarities including spinal segmentation anomalies, congenital heart disease, ocular colobomata, hand anomalies and (in two patients) unilateral renal agenesis/horseshoe kidney. Characteristic facial features included micrognathia, a thin upper lip and long philtrum, narrow almond-shaped palpebral fissures, synophrys, flared eyebrows and facial hypertrichosis. Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies, adding to disorders of human development resulting from aberrant RNA processing/spliceosomal function

Studies on the Cobalt Deficiency in Ruminants (III) : Effects of Thiamine, Glucose and Cobalamin Injection on the Metabolism of Cobalt-deficient Sheep

International audienceN-terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N-terminal acetylation complex NatA have been associated with diverse, syndromic X-linked recessive disorders, whereas de novo missense mutations have been reported in one male and one female individual with severe intellectual disability but otherwise unspecific phenotypes. Thus, the full genetic and clinical spectrum of NAA10 deficiency is yet to be delineated. We identified three different novel and one known missense mutation in NAA10, de novo in 11 females, and due to maternal germ line mosaicism in another girl and her more severely affected and deceased brother. In vitro enzymatic assays for the novel, recurrent mutations p.(Arg83Cys) and p.(Phe128Leu) revealed reduced catalytic activity. X-inactivation was random in five females. The core phenotype of X-linked NAA10-related N-terminal-acetyltransferase deficiency in both males and females includes developmental delay, severe intellectual disability, postnatal growth failure with severe microcephaly, and skeletal or cardiac anomalies. Genotype–phenotype correlations within and between both genders are complex and may include various factors such as location and nature of mutations, enzymatic stability and activity, and X-inactivation in females

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

International audienceSHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had 4 or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included IUGR \textless 10(th) percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock