Inherited metabolic disorders (IMDs) are a diverse group of hereditary abnormalities that leads to a defect in metabolic pathway. Its diagnosis has been transformed by the innovations of molecular genetics and computational biology. Conventionally, diagnosis of IMDs is dependent on clinical findings and biochemical tests. Yet, these methods are limited due to a heterogeneity of such disorders and a large number of genes involved. The main objective of this review is to highlight the role of next-generation sequencing (NGS), including targeted gene panels, whole-exome sequencing (WES), and whole-genome sequencing (WGS), in the diagnosis of IMDs and providing reliable information in identifying genetic causes, and to explore the integrated analysis of several molecular layers such as genomics, transcriptomics, proteomics, metabolomics, and epigenetics. Targeted mass spectrometry and untargeted metabolomics methods are essential approaches for screening and identifying the metabolic patterns that act as a diagnosis biomarker to confirm the biochemical phenotypes associated with IMDs. Moreover, a new diagnostic model has been developed from the combination data of transcriptomics and proteomics to determine whether a gene mutation leads to a protein's dysfunction or not. The review concludes that the IMDs diagnosis should be lied in a fully integrated between molecular genetics techniques with multi-omics pipeline enhanced by artificial intelligence (AI) and machine learning (ML), which will provide a more rapid, accurate, and accessible path to diagnosis and, ultimately, more effective treatment.
Experimental investigation for small horizontal portable wind turbine (SHPWT) of NACA-44, BP-44, and NACA-63, BP-63 profiles under laboratory conditions at different wind velocity range of (3.7-5.8 m/s) achieved in present work. Experimental data tabulated for 2, 3, 4, and 6- bladed rotor of both profiles within range of blade pitch angles . A mathematical model formulated and computer Code for MATLAB software developed. The least-squares regression is used to fit experimental data. As the majority of previous works have been presented for large scale wind turbines, the aims were to present the performance of (SHPWT) and also to make a comparisons between both profiles to conclude which is the best performance. The overall efficiency and el
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KA Hadi, AH Asma’a, IJONS, 2018 - Cited by 1
High smoke emissions, nitrogen oxide and particulate matter typically produced by diesel engines. Diminishing the exhausted emissions without doing any significant changes in their mechanical configuration is a challenging subject. Thus, adding hydrogen to the traditional fuel would be the best practical choice to ameliorate diesel engines performance and reduce emissions. The air hydrogen mixer is an essential part of converting the diesel engine to work under dual fuel mode (hydrogen-diesel) without any engine modification. In this study, the Air-hydrogen mixer is developed to get a homogenous mixture for hydrogen with air and a stoichiometric air-fuel ratio according to the speed of the engine. The mixer depends on the balance between th
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The present work introduces, external morphological study of the leafhopper Neoalitarus
fenestratus Herrich-Schäeffer (Deltocephalinae:Oposiini), particularly the male genitalia
which were dissected and illustrated.
LED is an ultra-lightweight block cipher that is mainly used in devices with limited resources. Currently, the software and hardware structure of this cipher utilize a complex logic operation to generate a sequence of random numbers called round constant and this causes the algorithm to slow down and record low throughput. To improve the speed and throughput of the original algorithm, the Fast Lightweight Encryption Device (FLED) has been proposed in this paper. The key size of the currently existing LED algorithm is in 64-bit & 128-bit but this article focused mainly on the 64-bit key (block size=64-bit). In the proposed FLED design, complex operations have been replaced by LFSR left feedback technology to make the algorithm perform more e
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By optimizing the efficiency of a modular simulation model of the PV module structure by genetic algorithm, under several weather conditions, as a portion of recognizing the ideal plan of a Near Zero Energy Household (NZEH), an ideal life cycle cost can be performed. The optimum design from combinations of NZEH-variable designs, are construction positioning, window-to-wall proportion, and glazing categories, which will help maximize the energy created by photovoltaic panels. Comprehensive simulation technique and modeling are utilized in the solar module I-V and for P-V output power. Both of them are constructed on the famous five-parameter model. In addition, the efficiency of the PV panel is established by the genetic algorithm
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A New developed technique to estimate the necessary six elastic constants of homogeneous laminate of special orthotropic properties are presented in this paper for the first time. The new approach utilizes the elasto-static deflection behavior of composite cantilever beam employing the famous theory of Timoshenko. Three extracted strips of the composite plate are tested for measuring the bending deflection at two locations. Each strip is associated to a preferred principal axis and the deflection is measured in two orthogonal planes of the beam domain. A total of five trails of testing is accomplished and the numerical results of the stiffness coefficients are evaluated correctly under the contribution of the macromechanic
... Show MoreTillage appearance device is mechanical, electric-electronic design, getting Patent from the Central Organization for Standardization and Quality Control – Industrial Property Department - Ministry of Planning – The Republic of IRAQ under number Patent 3876 in 20 / 4 / 2014, calculates the number of clods per area by Tillage appearance device, This is done through the generation electrical impulses are sent to the controlled accurate calculates number clods required space and shows the result on the screen in order to see the tillage view per area. Three factor used in these experiment, first factor represents forward speed of tractor three levels (3.5, 4.5, and 5.5 km/h), second factor represent soil moisture content at two levels (14
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