Comparisons of case-selection approaches based on allele sharing and/or disease severity index: application to the GAW14 simulated data-0

<p><b>Copyright information:</b></p><p>Taken from "Comparisons of case-selection approaches based on allele sharing and/or disease severity index: application to the GAW14 simulated data"</p><p></p><p>BMC Genetics 2005;6(Suppl 1):S103-S103.</p><p>Published online 30 Dec 2005</p><p>PMCID:PMC1866836.</p><p></p>B); iii) a case with the most severe disease (AMS); iv) a randomly selected case per linked family (LR); v) a case with most IBD sharing with other affected sibs from linked families only (LB); vi) a case with the most-severe disease chosen from linked families only (LMS). The horizontal dashed lines on both figures denote -values of 0.05, 0.01, and 0.001, respectively. The regions between the vertical dashed lines represent the haplotype region containing the disease locus

Photophysical Properties of Chiral Tetraphenylethylene Derivatives with the Fixed Propeller-Like Conformation

The recent synthesized helical tetraphenylethylene (TPE) exhibits broad application prospects such as display, catalysis, and medical imaging. A full understanding of the intricate relation between structure and property is rather important to structural design and performance improvement. Here, we employed density functional theory (DFT) and time-dependent DFT to calculate their ground- and excited-state structures, electron transition properties, optical rotation (OR), and second-order nonlinear optical (NLO) properties. For compound <b>1</b>, the simulated UV–vis/CD spectra and calculated OR value are in reasonable agreement with the experimental ones, allowing us to reliably assign the electron transition and determine the absolute configuration. Intriguingly, TPE derivatives are excellent candidates for the second-order NLO materials in view of the large first hyperpolarizability values and intrinsic asymmetric structures. The intramolecular charge transfer cooperativity for this kind of compound was achieved through involvement of the donor and acceptor substituent groups or their combinations. The charge transfer within TPE plays a key role in determining the chiral origin and electron transition properties, whereas the contribution of peripheral phenyl rings is fairly small. Moreover, the designed compounds <b>5</b> and <b>7</b> are potential materials for the fluorescent probe

Unique Gold Nanorods Embedded Active Layer Enabling Strong Plasmonic Effect To Improve the Performance of Polymer Photovoltaic Devices

It has been widely reported that plasmonic effects of metallic nanomaterials can enhance light-harvesting in polymer solar cells (PSCs). However, the improved light trapping degree is closely related to the shape of the nanoparticles (NPs), which inevitably limits the efficiency enhancement for PSCs. In this paper, we demonstrate that the incorporation of Au arrowhead nanorods (AHNRs) into the active layer of inverted PSCs can dramatically lead to a 28.7% efficiency enhancement as compared to preoptimize control PSCs. Both theoretical and experimental results show that the origin of the improved power conversion efficiency (PCE) can be attributed to not only the optical absorption enhancement but also charge transport capacity improvement. The metal tip of AHNRs can lead to a significant enhancement of local field and long-range scattering. In addition, a wide-band absorption improvement is observed, and charge carrier mobilities increase by an order of magnitude. These results offer an effective approach to enhance the efficiency for PSCs

Annealing-Free ZnO:PEI Composite Cathode Interfacial Layer for Efficient Organic Solar Cells

The polymer solar cells owning organic–inorganic composite cathode interlayer are fabricated to achieve well electron extraction compared to the devices with single inorganic semiconductor materials, leading to a significant enhancement of short-circuit current density (<i>J</i>_sc) and fill factor (FF) as well as slight improvement of open-circuit voltage (<i>V</i>_oc). The incorporation of PEI mainly contributes to the decreased work function of the ZnO layer and the reduced interfacial barrier, which are beneficial for the easy electrons extraction and the declined charge recombination. Strikingly, a postannealing treatment is employed for the completed device with electrode to improve the interfacial characteristics between the active layer and the MoO₃ layer, which is a successful method to further increase the <i>V</i>_oc for the device based on PTB7:PC₇₁BM. Our work provides a simple fabrication technology to improve the interfacial contact between active layer and adjacent interlayer, while possessing the major roles on the simultaneously enhanced <i>J</i>_sc, FF, and <i>V</i>_oc

Large Genomic Region Free of GWAS-Based Common Variants Contains Fertility-Related Genes

<div><p>DNA variants, such as single nucleotide polymorphisms (SNPs) and copy number variants (CNVs), are unevenly distributed across the human genome. Currently, dbSNP contains more than 6 million human SNPs, and whole-genome genotyping arrays can assay more than 4 million of them simultaneously. In our study, we first questioned whether published genome-wide association studies (GWASs) assays cover all regions well in the genome. Using dbSNP build 135 data, we identified 50 genomic regions longer than 100 Kb that do not contain any common SNPs, i.e., those with minor allele frequency (MAF)≥1%. Secondly, because conserved regions are generally of functional importance, we tested genes in those large genomic regions without common SNPs. We found 97 genes and were enriched for reproduction function. In addition, we further filtered out regions with CNVs listed in the Database of Genomic Variants (DGV), segmental duplications from Human Genome Project and common variants identified by personal genome sequencing (UCSC). No region survived after those filtering. Our analysis suggests that, while there may not be many large genomic regions free of common variants, there are still some “holes” in the current human genomic map for common SNPs. Because GWAS only focused on common SNPs, interpretation of GWAS results should take this limitation into account. Particularly, two recent GWAS of fertility may be incomplete due to the map deficit. Additional SNP discovery efforts should pay close attention to these regions.</p></div

Data Sources Used in This Study.

<p>Data Sources Used in This Study.</p

List of 50 common SNP-free regions containing 97 genes.

<p>List of 50 common SNP-free regions containing 97 genes.</p

List of 20 common variant-free regions containing 20 genes.

<p>List of 20 common variant-free regions containing 20 genes.</p

Decreased Charge Transport Barrier and Recombination of Organic Solar Cells by Constructing Interfacial Nanojunction with Annealing-Free ZnO and Al Layers

To overcome drawbacks of the electron transport layer, such as complex surface defects and unmatched energy levels, we successfully employed a smart semiconductor–metal interfacial nanojunciton in organic solar cells by evaporating an ultrathin Al interlayer onto annealing-free ZnO electron transport layer, resulting in a high fill factor of 73.68% and power conversion efficiency of 9.81%. The construction of ZnO-Al nanojunction could effectively fill the surface defects of ZnO and reduce its work function because of the electron transfer from Al to ZnO by Fermi level equilibrium. The filling of surface defects decreased the interfacial carrier recombination in midgap trap states. The reduced surface work function of ZnO-Al remodulated the interfacial characteristics between ZnO and [6,6]-phenyl C71-butyric acid methyl ester (PC₇₁BM), decreasing or even eliminating the interfacial barrier against the electron transport, which is beneficial to improve the electron extraction capacity. The filled surface defects and reduced interfacial barrier were realistically observed by photoluminescence measurements of ZnO film and the performance of electron injection devices, respectively. This work provides a simple and effective method to simultaneously solve the problems of surface defects and unmatched energy level for the annealing-free ZnO or other metal oxide semiconductors, paving a way for the future popularization in photovoltaic devices

Orienting the Microstructure Evolution of Copper Phthalocyanine as an Anode Interlayer in Inverted Polymer Solar Cells for High Performance

Recent advances in the interfacial modification of inverted-type polymer solar cells (PSCs) have resulted from controlling the surface energy of the cathode-modified layer (TiO₂ or ZnO) to enhance the short-circuit current (<i>J</i>_sc) or optimizing the contact morphology of the cathode (indium tin oxide or fluorine-doped tin oxide) and active layer to increase the fill factor. Herein, we report that the performance enhancement of PSCs is achieved by incorporating a donor macromolecule copper phthalocyanine (CuPc) as an anode modification layer. Using the approach based on orienting the microstructure evolution, uniformly dispersed island-shaped CuPc spot accumulations are built on the top of PTB7:PC₇₁BM blend film, leading to an efficient spectral absorption and photogenerated exciton splitting. The best power conversion efficiency of PSCs is increased up to 9.726%. In addition to the enhanced light absorption, the tailored anode energy level alignment and optimized boundary morphology by incorporating the CuPc interlayer boost charge extraction efficiency and suppress the interfacial molecular recombination. These results demonstrate that surface morphology induction through molecular deposition is an effective method to improve the performance of PSCs, which reveals the potential implications of the interlayer between the organic active layer and the electrode buffer layer