Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring. In 219 of these, we found likely causative variants, involving 77 known and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated in diseases other than ID. This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence.

Exploiting wind energy, which is a complex process in urban areas, requires turbines suitable for unfavorable weather conditions, in order to trap the wind from different directions; Savonius turbines are suitable for these conditions. In this paper, the effect of overlap ratios and the position of blades on a vertical axis wind turbine is comprehensively investigated and analyzed. For this purpose, two positive and negative overlap situations are first defined along the X-axis and examined at the different tip speed ratios of the blade, while maintaining the size of the external diameter of the rotor, to find the optimum point; then, the same procedure is done along the Y-axis. The finite volume method is used to solve the computational fluid dynamics. Two-dimensional numerical simulations are performed using URANS equations and the sliding mesh method. The turbulence model employed is a realizable K-ε model. According to the values of the dynamic torque and power coefficient, while investigating horizontal and vertical overlaps along the X- and Y-axis, the blades with overlap ratios of HOLR = +0.15 and VOLR = +0.1 show better performances when compared to other corresponding overlaps. Accordingly, the average Cm and Cp improvements are 16% and 7.5%, respectively, compared to the base with a zero overlap ratio.

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A complete analytical study of the invariant manifolds for the Newton-Raphson solution of the power flow equations is presented. Based on these results, a new test is developed to reduce the computation effort of finding the solutions to ill-conditioned power systems. A detailed study of some well-known test systems clearly indicates that the new method is at least 50 percent more efficient than the conventional Newton-Raphson in finding a pair of close solutions in ill-conditioned power systems.