Effects of Pairing in the Pseudo-SU(3) Model

An extended version of the pseudo-SU(3) model which includes both spin and proton-neutron degrees of freedom is used to study the influence of the pairing interaction on K-band mixing, B(E2) values and quadrupole moments. Using the asymmetric rotor model as a backdrop, specific consequences of a many-particle shell-model based description of these collective properties are demonstrated and fundamental limits of the collective model's approach are investigated. Finally, the pseudo-SU(3) model, including representation mixing induced by pairing, is used to calculate the energies of 140Ce and the results are compared to experimental data and other theories.Comment: 21 pages, Latex, 11 figures available on request via mail or fax, accepted by Nucl. Phys.

Macrofauna assemblages in a XVIIth century shipwreck: comparison with those on natural reefs and sandy bottoms

The macrofauna assemblages of a XVIIth century shipwreck off southern Portugal were studied and compared with those of nearby natural reefs and sandy bottoms, by underwater visual census. A total of 11 173 specimens of 224 different fauna taxa and 12 phyla were recorded. Natural reefs had the highest density of specimens (35 122 / 1000 m2) followed by the shipwreck (21 392 / 1000 m2) and the sandy bottoms (3771 / 1000 m2). Three biodiversity indices were estimated (Margalef, Shannon- Wiener and Pielou), with the natural reefs showing the highest values. However, the shipwreck presented values relatively similar to those of the natural reefs for the Shannon-Wiener and Pielou indices. The three habitats were clearly distinguishable by multivariate statistical analysis, with the average dissimilarity between sand and shipwreck, and between sand and natural reefs being much higher than that between the shipwreck and the natural reefs. The shipwreck had higher abundances of some commercially important species, such as the pouting Trisopterus luscus, European conger Conger conger, and common spider crab Maja squinado, as well as some vulnerable and threatened species such as the pink seafan Eunicella verrucosa. The results presented emphasize the importance of this habitat on the southern Portuguese coast.info:eu-repo/semantics/publishedVersio

Macrofauna assemblages in a XVIIth century shipwreck: comparison with those on natural reefs and sandy bottoms

The macrofauna assemblages of a XVIIth century shipwreck off southern Portugal were studied and compared with those of nearby natural reefs and sandy bottoms, by underwater visual census. A total of 11 173 specimens of 224 different fauna taxa and 12 phyla were recorded. Natural reefs had the highest density of specimens (35 122 / 1000 m2) followed by the shipwreck (21 392 / 1000 m2) and the sandy bottoms (3771 / 1000 m2). Three biodiversity indices were estimated (Margalef, Shannon- Wiener and Pielou), with the natural reefs showing the highest values. However, the shipwreck presented values relatively similar to those of the natural reefs for the Shannon-Wiener and Pielou indices. The three habitats were clearly distinguishable by multivariate statistical analysis, with the average dissimilarity between sand and shipwreck, and between sand and natural reefs being much higher than that between the shipwreck and the natural reefs. The shipwreck had higher abundances of some commercially important species, such as the pouting Trisopterus luscus, European conger Conger conger, and common spider crab Maja squinado, as well as some vulnerable and threatened species such as the pink seafan Eunicella verrucosa. The results presented emphasize the importance of this habitat on the southern Portuguese coast.info:eu-repo/semantics/publishedVersio

Early reserve effects linked to small home ranges of a commercial fish, Diplodus sargus, Sparidae

Studies that combine both the ecological responses of marine species and protection measures with movement patterns and habitat use are of major importance in order to better understand the performance of marine protected areas (MPA) and how species respond to their implementation. However, few studies have assessed MPA performance by relating local individual movement patterns and the observed reserve effects. In this study, we combined acoustic telemetry with abundance estimates to study the early effects of a recently established small coastal MPA on the local populations of white seabream. The results show that even small, recently established coastal MPAs can increase the abundance and biomass of commercial fish species, provided that target species have small home ranges and exhibit high site fidelity

Path: a tool to facilitate pathway-based genetic association analysis

Summary: Traditional methods of genetic study design and analysis work well under the scenario that a handful of single nucleotide polymorphisms (SNPs) independently contribute to the risk of disease. For complex diseases, susceptibility may be determined not by a single SNP, but rather a complex interplay between SNPs. For large studies involving hundreds of thousands of SNPs, a brute force search of all possible combinations of SNPs associated with disease is not only inefficient, but also results in a multiple testing paradigm, whereby larger and larger sample sizes are needed to maintain statistical power. Pathway-based methods are an example of one of the many approaches in identifying a subset of SNPs to test for interaction. To help determine which SNP–SNP interactions to test, we developed Path, a software application designed to help researchers interface their data with biological information from several bioinformatics resources. To this end, our application brings together currently available information from nine online bioinformatics resources including the National Center for Biotechnology Information (NCBI), Online Mendelian Inheritance in Man (OMIM), Kyoto Encyclopedia of Genes and Genomes (KEGG), UCSC Genome Browser, Seattle SNPs, PharmGKB, Genetic Association Database, the Single Nucleotide Polymorphism database (dbSNP) and the Innate Immune Database (IIDB)

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The initial phases of the programme focused on whole-genome sequencing of individuals with rich phenotypic data and diverse backgrounds. Here we describe the TOPMed goals and design as well as the available resources and early insights obtained from the sequence data. The resources include a variant browser, a genotype imputation server, and genomic and phenotypic data that are available through dbGaP (Database of Genotypes and Phenotypes)(1). In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion variants after alignment with the reference genome. Additional previously undescribed variants were detected through assembly of unmapped reads and customized analysis in highly variable loci. Among the more than 400 million detected variants, 97% have frequencies of less than 1% and 46% are singletons that are present in only one individual (53% among unrelated individuals). These rare variants provide insights into mutational processes and recent human evolutionary history. The extensive catalogue of genetic variation in TOPMed studies provides unique opportunities for exploring the contributions of rare and noncoding sequence variants to phenotypic variation. Furthermore, combining TOPMed haplotypes with modern imputation methods improves the power and reach of genome-wide association studies to include variants down to a frequency of approximately 0.01%

A36 Prevalence of HIV-1 subtypes in Slovenia with an emphasis on molecular and phylogenetic investigation of subtype A

21st International BioInformatics Workshop on Virus Evolution and Molecular EpidemiologyIn Slovenia, a small country in Central Europe, less than 1 per 1,000 inhabitants are estimated to be infected with HIV-1. As in most of the Central and Western European countries, the majority of patients diagnosed with HIV-1 are infected with subtype B. However, due to migration, other subtypes can become more prevalent in the country. The aim of this study was to determine HIV-1 subtypes circulating in Slovenia and to further examine the molecular epidemiology of subtype A. A total of 367 Slovenian HIV-1 sequences were included in the study, representing 58% of all patients diagnosed in Slovenia until the end of the year 2013. Subtype was assigned by employing different HIV subtyping tools coupled with Maximum likelihood phylogenetic analysis. The latter was performed to examine the molecular epidemiology of subtype A as well. Identified clusters of Slovenian subtype A sequences were further analyzed for the determination of the time of the most recent common ancestor (tMRCA) by using Monte Carlo Markov chain (MCMC) method available in BEAST 2.1.3 software. We determined the prevalence of subtype B to be 85.3%, while subtype A was the most prevalent non-B subtype found in 18 patients (4.9%), followed by CRF02_AG (2.4%), subtype C (1.1%), subtypes D, G and CRF01_AE (0.8% each) and subtypes F1 and CRF22_01A1 (0.3% each). Subtypes could not be assigned to 12 sequences (3.3%). The phylogenetic tree obtained by ML analysis of the subtype A and subtype A related recombinants revealed that Slovenian sequences were part of 6 major international clusters. Two clusters consisting only of Slovenian sequences were identified and thus additional MCMC analysis was employed. Results of a Slovenian cluster of 4 subtype A sequences showed a posterior probability value of 1 and a tMRCA between the years 1985 and 2008, with a mean in the year 2001. In conclusion, in a Central European country, where subtype B predominates, the second most common subtype was found to be subtype A. Non-B subtypes were observed in one out of seven patients in Slovenia, a fraction that is not negligible, thus proving importance of surveillance of HIV subtype diversity and corresponding molecular epidemiology of non-B subtypes.publishersversionpublishe

Parameter Estimation and Quantitative Parametric Linkage Analysis with GENEHUNTER-QMOD

Objective: We present a parametric method for linkage analysis of quantitative phenotypes. The method provides a test for linkage as well as an estimate of different phenotype parameters. We have implemented our new method in the program GENEHUNTER-QMOD and evaluated its properties by performing simulations. Methods: The phenotype is modeled as a normally distributed variable, with a separate distribution for each genotype. Parameter estimates are obtained by maximizing the LOD score over the normal distribution parameters with a gradient-based optimization called PGRAD method. Results: The PGRAD method has lower power to detect linkage than the variance components analysis (VCA) in case of a normal distribution and small pedigrees. However, it outperforms the VCA and Haseman-Elston regression for extended pedigrees, nonrandomly ascertained data and non-normally distributed phenotypes. Here, the higher power even goes along with conservativeness, while the VCA has an inflated type I error. Parameter estimation tends to underestimate residual variances but performs better for expectation values of the phenotype distributions. Conclusion: With GENEHUNTER-QMOD, a powerful new tool is provided to explicitly model quantitative phenotypes in the context of linkage analysis. It is freely available at http://www.helmholtz-muenchen.de/genepi/downloads. Copyright (C) 2012 S. Karger AG, Base

Combined Linkage and Association Analyses of the 124-bp Allele of Marker D2S2944 with Anxiety, Depression, Neuroticism and Major Depression

A central issue in psychiatric genetics is whether positive findings replicate. Zubenko et al. (2002b, Mol. Psychiatry 7:460-467) reported an association of the 124-bp allele of D2S2944 with recurrent early-onset major depression for females. We tested for association of this allele to continuous measures of anxiety, depression and neuroticism in a Dutch sample of 347 males and 448 females, and to DSM-IV major depression in a subsample of 210 males and 295 females. The association of the 124-bp allele to depression in females was not replicated, but there were significant associations (not significant after correction for multiple testing) with anxiety and anxious depression in males. However, the association occurred in the absence of evidence for linkage in this region on chromosome 2. © 2006 Springer Science+Business Media, Inc

Purifying Selection in Deeply Conserved Human Enhancers Is More Consistent than in Coding Sequences

(c) 2014 De Silva et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited