carrier frequency
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2022 ◽  
Vol 2022 ◽  
pp. 1-8
Author(s):  
Cao Guomei ◽  
Zhang Luyan ◽  
Dai Lingling ◽  
Huang Chunhong ◽  
Chen Shan

Objective. To detect the carrier rates of deafness gene variants in populations in Ningbo and analyze the risk of hereditary hearing loss through concurrent hearing and genetic screening tests. Methods. Two thousand one hundred and seventy-four newborns were enrolled from November 2018 to August 2019. All subjects underwent hearing screening and newborn deafness genetic screening with 15 variants in 4 genes, and the positive sites were simultaneously verified by sequencing. Results. The total carrier rate of genetic variants in Ningbo reached 4.32%, when GJB2 c.235delC was the variant with the highest prevalence (2.12%), approximately accounting for 48.9% of the total carrier frequency. The carrier frequency of SLC26A4 c.919-2A>G was 0.87%, while the most common variant in mitochondrial DNA (mtDNA) MT-RNR1 gene was m.1555A>G, and its carrier frequency was 0.184%. In the OAE testing, 92 newborns passing hearing screening were tested positively for variants in 4 genes, and 2 of 42 newborns who failed in the first hearing test were found to mutate in 4 genes. Conclusion. Herein, the results concerning the carrier rates for deafness gene mutations of Ningbo population are reported. Our study is beneficial to the insight into the deafness genomic epidemiology for deafness genes in Ningbo population and provides the reference for healthcare in Ningbo.


Author(s):  
K. Seshadri Sastry ◽  
K. Baburao ◽  
A.V. Prabu ◽  
G.Naveen Kumar

In orthogonal frequency-division multiplexing (OFDM) systems, synchronization issues are of great importance since synchronization errors might destroy the orthogonality among all subcarriers and, therefore, introduce intercarrier interference (ICI) and intersymbol interference (ISI). Several schemes of frequency offset estimation in OFDM systems have been investigated. This paper compares performance and computational complexity of Smoothing Power Spectrum (SPS) and Frequency Analysis (FA) methods for blind carrier frequency offset (CFO) estimation in OFDM systems.


2022 ◽  
Vol 11 ◽  
Author(s):  
Van Thuan Tran ◽  
Sao Trung Nguyen ◽  
Xuan Dung Pham ◽  
Thanh Hai Phan ◽  
Van Chu Nguyen ◽  
...  

BackgroundHereditary cancer syndromes (HCS) are responsible for 5-10% of cancer cases. Genetic testing to identify pathogenic variants associated with cancer predisposition has not been routinely available in Vietnam. Consequently, the prevalence and genetic landscape of HCS remain unknown.Methods1165 Vietnamese individuals enrolled in genetic testing at our laboratory in 2020. We performed analysis of germline mutations in 17 high- and moderate- penetrance genes associated with HCS by next generation sequencing.ResultsA total of 41 pathogenic variants in 11 genes were detected in 3.2% individuals. The carrier frequency was 4.2% in people with family or personal history of cancer and 2.6% in those without history. The percentage of mutation carriers for hereditary colorectal cancer syndromes was 1.3% and for hereditary breast and ovarian cancer syndrome was 1.6%. BRCA1 and BRCA2 mutations were the most prevalent with the positive rate of 1.3% in the general cohort and 5.1% in breast or ovarian cancer patients. Most of BRCA1 mutations located at the BRCA C-terminus domains and the top recurrent mutation was NM_007294.3:c.5251C>T (p.Arg1751Ter). One novel variant NM_000038.6(APC):c.6665C>A (p.Pro2222His) was found in a breast cancer patient with a strong family history of cancer. A case study of hereditary cancer syndrome was illustrated to highlight the importance of genetic testing.ConclusionThis is the first largest analysis of carrier frequency and mutation spectrum of HCS in Vietnam. The findings demonstrate the clinical significance of multigene panel testing to identify carriers and their at-risk relatives for better cancer surveillance and management strategies.


2021 ◽  
Vol 5 (4) ◽  
pp. 466
Author(s):  
Yolen Perdana Sari ◽  
Shelvi Eka Tassia

OFDM is one of technology that can be utilized in a variety of telecommunication systems that being widely developed today, for application in LAN, WLAN, 3G, 4G,  or  5G. One of the problem faced by the OFDM technology that its sensitivity to Carrier Frequency Offset (CFO) and the lack of synchronization in the OFDM signal. This research aims to design the synchronization that estimates Carrier Frequency Offset (CFO) to obtain synchronization of OFDM signal, where the error of the estimated Carrier Frequency Offset can be obtained, minimized and better than previous studies. The CFO estimation method  in this research is using the training symbol on the OFDM symbol and utilize the statistical characteristics of the timing metric. This researchs result shows the Mean Square Error (MSE) of estimated Carrier Frequency Offset to Carrier Frequency Offset input, with range MSE 9.43 x 10-3 at 0 dB SNR input and MSE 1.687 x 10-5 at 30 dB SNR input. If Signal to Noise Ratio is greater, then the value of the mean square error (MSE) will be smaller. The position of the timing metric for timing estimation also affects to CFO estimation. CFO estimation accuracy will be maximized when using maximum timing metric.


Author(s):  
Mohammed Al Jumah ◽  
Saad Al Rajeh ◽  
Wafaa Eyaid ◽  
Ahmed Al-Jedai ◽  
Hajar Al Mudaiheem ◽  
...  

Spinal Muscular Dystrophy (SMA) is one of the leading causes of death in children from heritable diseases. It is reported that the incidence of SMA is higher in the Saudi population. 4198 healthy volunteers between 18 to 25 years old were included in this study of which (54.7% males vs 45.3% females). Whole blood was spotted from finger pricks onto IsoCode StixTM and genomic DNA was isolated using one triangle from the machine. Carrier frequency and population-level data were used to estimate the prevalence of SMA in the population utilizing the life table method. Results showed the presence of one copy of the SMN1 gene in 108 samples, two copies in 4090 samples, and a carrier frequency of 2.6%. Carrier figurine was twofold in females and 27% of participants were children of first-cousin marriages. The birth incidence of SMA was estimated to be 32 per 100,000 birth and the total number of people living with SMA in KSA to be 2,265 of which 188 are type I, 1,213 are type II, and 864 are type III. The SMA carrier rate of 2.6 % in Saudi subjects is slightly higher than the reported global frequency with links to the consanguineous marriages.


Author(s):  
Oleksandr Leonidovich Turovsky ◽  
Vadym Vlasenko ◽  
Nataliia Rudenko ◽  
Oleksandr Golubenko ◽  
Oleh Kitura ◽  
...  

The use in radio communication systems of phase modulation of a signal intended for the transmission of useful information in a continuous mode creates the problem of frequency uncertainty of the received signal by frequency.In practice, it is not possible to implement frequency estimation in the conditions of chat uncertainty of the signal in the channel with low energy of the signal received in the continuous mode. Therefore, the estimation of the carrier frequency offset of the signal received relative to the nominal value is carried out before other synchronization procedures are included, namely: phase synchronization and clock synchronization. The paper generalizes the procedure and forms a two-step procedure for calculating the carrier frequency of the phase-modulated signal of a radio communication system for data transmission in a continuous mode, taking into account the condition of uncertainty of all signal parameters. Achieving the minimum observation interval in the given order of calculation of the carrier frequency is ensured by the use of the fast Fourier transform function. In order to analyze the effectiveness of this procedure, the process of estimating the carrier frequency of the phase-modulated signal of the radio communication system during data transmission in continuous mode and functional dependences of the maximum frequency in the signal spectrum and the minimum variance of carrier frequency estimation. This procedure allows a two-stage assessment of the carrier frequency according to the rule of maximum likelihood, taking into account the condition of uncertainty of all parameters of the signal received by the satellite communication system in a continuous mode with a minimum observation interval. Achieving the minimum observation interval in the given order of carrier frequency estimation is ensured by using the fast Fourier transform function and two estimation steps. The analysis of the efficiency of the estimation of the specified order was carried out on the basis of comparison of a ratio of the received minimum variance of an estimation of a carrier frequency and theoretically possible border of the minimum variance.


2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Caitlin T. Fierheller ◽  
Laure Guitton-Sert ◽  
Wejdan M. Alenezi ◽  
Timothée Revil ◽  
Kathleen K. Oros ◽  
...  

Abstract Background Familial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the BRCA1 and BRCA2 OC-predisposing genes, which function in homologous recombination (HR) of DNA, could involve pathogenic variants in other DNA repair pathway genes. Methods Whole exome sequencing was used to identify rare variants in HR genes in a BRCA1 and BRCA2 pathogenic variant negative OC family of French Canadian (FC) ancestry, a population exhibiting genetic drift. OC cases and cancer-free individuals from FC and non-FC populations were investigated for carrier frequency of FANCI c.1813C>T; p.L605F, the top-ranking candidate. Gene and protein expression were investigated in cancer cell lines and tissue microarrays, respectively. Results In FC subjects, c.1813C>T was more common in familial (7.1%, 3/42) than sporadic (1.6%, 7/439) OC cases (P = 0.048). Carriers were detected in 2.5% (74/2950) of cancer-free females though female/male carriers were more likely to have a first-degree relative with OC (121/5249, 2.3%; Spearman correlation = 0.037; P = 0.011), suggesting a role in risk. Many of the cancer-free females had host factors known to reduce risk to OC which could influence cancer risk in this population. There was an increased carrier frequency of FANCI c.1813C>T in BRCA1 and BRCA2 pathogenic variant negative OC families, when including the discovery family, compared to cancer-free females (3/23, 13%; OR = 5.8; 95%CI = 1.7–19; P = 0.005). In non-FC subjects, 10 candidate FANCI variants were identified in 4.1% (21/516) of Australian OC cases negative for pathogenic variants in BRCA1 and BRCA2, including 10 carriers of FANCI c.1813C>T. Candidate variants were significantly more common in familial OC than in sporadic OC (P = 0.04). Localization of FANCD2, part of the FANCI-FANCD2 (ID2) binding complex in the Fanconi anaemia (FA) pathway, to sites of induced DNA damage was severely impeded in cells expressing the p.L605F isoform. This isoform was expressed at a reduced level, destabilized by DNA damaging agent treatment in both HeLa and OC cell lines, and exhibited sensitivity to cisplatin but not to a poly (ADP-ribose) polymerase inhibitor. By tissue microarray analyses, FANCI protein was consistently expressed in fallopian tube epithelial cells and only expressed at low-to-moderate levels in 88% (83/94) of OC samples. Conclusions This is the first study to describe candidate OC variants in FANCI, a member of the ID2 complex of the FA DNA repair pathway. Our data suggest that pathogenic FANCI variants may modify OC risk in cancer families.


Electronics ◽  
2021 ◽  
Vol 10 (23) ◽  
pp. 2942
Author(s):  
Wanru Hu ◽  
Zhugang Wang ◽  
Ruru Mei ◽  
Meiyan Lin

A simple data-aided carrier synchronization scheme is proposed for variable modulation (VM) communication systems under the initial conditions of a low signal-to-noise ratio (SNR) and normalized carrier frequency offset (CFO) symbol rate of 20%. The proposed carrier synchronization scheme is simplified into two steps; a reconfigurable L&R (RLR) algorithm and pilot-aided (PA) phase linear interpolation algorithm is applied for carrier frequency recovery (CFR) and carrier phase recovery (CPR), respectively. Furthermore, the autocorrelation values of multi-pilot blocks are superimposed to improve the accuracy of the CFR algorithm, and the algorithm formulas are decomposed and modularized to simplify the implementation complexity of the RLR algorithm. Simulation results show that the RLR algorithm can track and lock the CFO up to a 33.2% symbol rate and reduce the CFO to 0.024%. The bit error rate (BER) performance of the carrier synchronization scheme almost coincides with the theoretical curve results. Comparison of hardware complexity shows that the multiplication resource consumption can be reduced by at least 72.47%.


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