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.
Codes of red, green, and blue data (RGB) extracted from a lab-fabricated colorimeter device were used to build a proposed classifier with the objective of classifying colors of objects based on defined categories of fundamental colors. Primary, secondary, and tertiary colors namely red, green, orange, yellow, pink, purple, blue, brown, grey, white, and black, were employed in machine learning (ML) by applying an artificial neural network (ANN) algorithm using Python. The classifier, which was based on the ANN algorithm, required a definition of the mentioned eleven colors in the form of RGB codes in order to acquire the capability of classification. The software's capacity to forecast the color of the code that belongs to an object under de
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Spectrophotometric method was developed for the determination of copper(II) ion. Synthesized (2,2[O-Tolidine-4,4-bis azo]bis[4,5-diphenyl imidazole]) (MBBAI) was used as chromogenic reagent at pH=5. Various factors affecting complex formation, such as, pH effect, reagent concentration, time effect and temperature effect, have been considered and studied. Under optimum conditions concentration ranged from (5.00-80.00) µg/mL of copper(II) obeyed Beer`s Low. Maximum absorption of the complex was 409nm with molar absorpitivity 0.127x104 L mol-1 cm-1. Limit of detection(LOD) and Limit of quantification were 1.924 and 6.42 μg/mL, respectively.
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This survey investigates the thermal evaporation of Ag2Se on glass substrates at various thermal annealing temperatures (300, 348, 398, and 448) °K. To ascertain the effect of annealing temperature on the structural, surface morphology, and optical properties of Ag2Se films, investigations and research were carried out. The crystal structure of the film was described by Xray diffraction and other methods.The physical structure and characteristics of the Ag2Se thin films were examined using X-ray and atomic force microscopy (AFM) based techniques. The Ag2Se films surface morphology was examined by AFM techniques; the investigation gave average diameter, surface roughness, and grain size mutation values with increasing annealing temperature
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Now-a-days the Flexible AC Transmission Systems (FACTS) technology is very effective in improving the power flow along the transmission lines and makes the power system more flexible and controllable. This paper deals with the most robust type of FACTS devices; it’s a Unified Power Flow Controller (UPFC). Many cases have been taken to study how the system behaves in the presence and absence of the UPFC under normal and contingency conditions. The UPFC is a device that can be used to improve the bus voltage, increasing the loadability of the line and reduce the active and reactive power losses in the transmission lines, through controlling the flow of real and reactive power. Both the magnitude and the phase angle of th
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The - M ultiple mixing ratios of -transitions from levels of 56Fe populated in 56 56 Fe n n Fe ( , ) reactions are calculated by using const. S.T.M. This method has been used in other works [3,7] but with pure transition or with transitions that can be considered as pure transitions، in our work we used This method for mixed - transitions in addition to pure - transitions. The experimental angular distribution coefficients a2 was used from previous works [1] in order to calculet - values. It is clear from the results that the - values are in good agreement or consistent, within associated errors, with those reported previously [1]. The discrepancies that occur are due to inaccuracies existing in the expe
... Show MoreAbstract: The researcher aims to highlight the historical frames of political development in royal regime era (1921-1949) and study its transitions on social-political aspect for the various periods during this consistent era of Iraq history. As some elements played an important role in shaping this era’s features ,as well as 2hat succeed it, which mainly affected the political progression’s configuration, such as : political culture role, social and cultural foundation, state policy essence and the unofficial institutions remarkable role in influencing public awareness and concerning it's relation to the state ,the clan and religious institutions. The researcher employed Alexis de Tocqueville’s evaluation criteria and indi
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Background: Bone density is a major factor that affect mini implant primarily stability; no Iraqi studies have evaluated bone density related to mini-implant placement for orthodontic anchorage at age 13 -15 years. The present research aims to evaluate gender, side and site differences in the bone density at various orthodontic implant sites for the maxillary alveolar bone. Materials and methods: Twenty nine individuals (16 males and 13 females) had subjected to clinical examination, then 64-multislice computed tomography scan data were evaluated and bone density was measured in Hounsfield unit at 21 points (9 points for each side and 3 points between the right and left central incisors) . Results: The results obtained showed that there ar
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