Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.

Biallelic variants in RNU4ATAC, a non-coding gene transcribed into the minor spliceosome component U4atac snRNA, are responsible for three rare recessive developmental diseases, namely Taybi-Linder/MOPD1, Roifman and Lowry-Wood syndromes. Next-generation sequencing of clinically heterogeneous cohorts (children with either a suspected genetic disorder or a congenital microcephaly) recently identified mutations in this gene, illustrating how profoundly these technologies are modifying genetic testing and assessment. As RNU4ATAC has a single non-coding exon, the bioinformatic prediction algorithms assessing the effect of sequence variants on splicing or protein function are irrelevant, which makes variant interpretation challenging to molecular diagnostic laboratories.

Indoor Experimental Assessment of the Efficiency and Irradiance Spot of the Achromatic Doublet on Glass (ADG) Fresnel Lens for Concentrating Photovoltaics.

We present a method to characterize achromatic Fresnel lenses for photovoltaic applications. The achromatic doublet on glass (ADG) Fresnel lens is composed of two materials, a plastic and an elastomer, whose dispersion characteristics (refractive index variation with wavelength) are different. We first designed the lens geometry and then used ray-tracing simulation, based on the Monte Carlo method, to analyze its performance from the point of view of both optical efficiency and the maximum attainable concentration.

Design and modeling of a cost-effective achromatic Fresnel lens for concentrating photovoltaics.

This paper presents a novel Fresnel lens capable of significantly reducing chromatic aberration in solar applications. The optical performance of this achromatic lens has been analyzed through ray-tracing simulations, showing a concentration factor three times higher than that attained by a classic silicone on glass (SOG) Fresnel lens while maintaining the same acceptance angle. This should avoid the need for a secondary optical element, reducing the cost associated with its manufacturing and assembly and increasing the module reliability.

Hybrid lighting-CPV, a new efficient concept mixing illumination with CPV.

Hybrid Lighting-CPV concept mixes illumination using low-cost fiber optics for light transmission with conventional Concentrating Photovoltaic (CPV) technology. This approach may offer an important increase in the value of a CPV system. Direct illumination from sunlight with fibers does not require the double light-electricity-light energy conversion allowing for efficient lighting using just a small area of the CPV system, preferably those areas with lower CPV efficiency conversion.

Antireflective coatings for multijunction solar cells under wide-angle ray bundles.

Two important aspects must be considered when optimizing antireflection coatings (ARCs) for multijunction solar cells to be used in concentrators: the angular light distribution over the cell created by the particular concentration system and the wide spectral bandwidth the solar cell is sensitive to. In this article, a numerical optimization procedure and its results are presented. The potential efficiency enhancement by means of ARC optimization is calculated for several concentrating PV systems.

Solar simulator for concentrator photovoltaic systems.

A solar simulator for measuring performance of large area concentrator photovoltaic (CPV) modules is presented. Its illumination system is based on a Xenon flash light and a large area collimator mirror, which simulates natural sun light. Quality requirements imposed by the CPV systems have been characterized: irradiance level and uniformity at the receiver, light collimation and spectral distribution.