Abstract
Background
ImputAccur
is a software tool to measure genotype-imputation accuracy. Imputation of untyped markers is a standard approach in genome-wide association studies to close the gap ...between directly genotyped and other known DNA variants. However, high accuracy for imputed genotypes is fundamental. Several accuracy measures have been proposed, but unfortunately, they are implemented on different platforms, which is impractical.
Results
With
ImputAccur,
the accuracy measures
info, Iam-hiQ
and
r
2
-based
indices can be derived from standard output files of imputation software. Sample/probe and marker filtering is possible. This allows e.g. accurate marker filtering ahead of data analysis.
Conclusions
The source code (Python version 3.9.4), a standalone executive file, and example data for
ImputAccur
are freely available at
https://gitlab.gwdg.de/kolja.thormann1/imputationquality.git
.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Background and purpose
The social and economic consequences of comorbidity in multiple sclerosis (MS) are largely unexplored. Differences were investigated in income and in the rate of broken ...relationships between cases of MS with and without chronic comorbidity.
Methods
We conducted a nationwide cohort study including all incident cases of MS in Denmark with clinical MS onset between 1980 and 2005. The difference in income was investigated at MS onset and 5 and 10 years after MS onset. The difference in the rate of broken relationships was investigated in subjects who were in a relationship at MS onset or who entered a relationship after MS onset. We used logistic, multiple linear and Poisson regression analyses.
Results
Cases of MS with somatic comorbidity had increased odds of low incomes both 5 years {odds ratio (OR), 1.41 95% confidence interval (CI), 1.19–1.67; P < 0.0005} and 10 years OR, 1.37 (95% CI, 1.17–1.60); P < 0.0005 after MS onset. The odds of a low income with psychiatric comorbidity was increased 10 years after MS onset OR, 3.06 (95% CI, 1.47–6.37); P = 0.003. The rate of broken relationships was increased in cases of MS with any somatic comorbidity incidence rate ratio, 1.46 (95% CI, 1.32–1.61); P < 0.0005.
Conclusions
Our results underscore the burden of comorbidity in MS on patients, their partners and society.
Nanoporous aluminum oxide membranes were prepared by anodic oxidation of aluminum for application as novel cell culture substrates. Self-supporting as well as mechanically stabilized nanoporous ...membranes were produced from aluminum plates and micro-imprinted aluminum foils, respectively. Membranes of two different pore sizes (70 and 260
nm) were selected to investigate cellular interactions with such nanoporous substrates using cells of hepatoma cell line HepG2. The membranes express excellent cell-growth conditions. As shown by scanning electron microscopy investigations, the cells could easily adhere to the membranes and proliferate during a 4
day cell culture period. The cells exhibit normal morphology and were able to penetrate into pores with a diameter of 260
nm by small extensions (filopodia). On mechanically stabilized aluminum oxide membranes it was observed that the cells even adhere to the walls of the small cavities. It was demonstrated experimentally that the nanoporous aluminum oxide membranes are well suited as substrates in cell culture model systems for metabolic, pharmacological/toxicological research, tissue engineering and studies on pathogens as well as bioartificial liver systems.
This paper investigates the concept of a sensor based robot co-worker working in flexible industrial environments together with and alongside human operators. In this particular work, a realisation ...of a robot co-worker scenario is developed in order to demonstrate the implementation of a robot co-worker from the starting point of an autonomous industrial mobile manipulator. The cobot is applied on the industrially relevant task of screwing by the use of a skill-based approach. The technical work on the human-robot interface and the screwing skill is described.
In 1993, experiments on the restoration of calcareous grasslands on ex‐arable fields were started in order to provide new habitats for species of a small nature reserve with ancient grasslands north ...of Munich (Germany). The effects of diaspore transfer by the application of seed‐containing hay on vegetation establishment were studied on restoration fields with and without topsoil removal for 5 years. The aim of the study was to assess plant diversity for the evaluation of restoration success by different methods including determination of species with viable seeds in the hay by germination tests, phenological investigations on hay‐transfer source sites at the time of harvest, and vegetation analyses on the restoration sites. Total seed content of the hay and the number and composition of plant species with viable seeds were affected by the time of harvesting and differed between a site which had been used as arable field until 1959 and ancient grassland sites. Nevertheless, the number of established hay‐transfer species showed only few differences between restoration fields. The proportion of species transferred to restoration fields in relation to the number of species with viable seeds in the hay was between 69 and 89%. Five years after the hay transfer, the proportion of the established species was still between 58 and 76%. Up to now, topsoil removal had no significant effect on the number of established hay‐transfer species. After triple hay application the absolute number of transferred grassland species was higher than on sites with single hay application, but restoration efficiency was lower because many of the species with viable seeds in the hay did not establish. In general, our results showed that the transfer of autochthonous hay is a successful method to overcome dispersal limitation in restoration projects.
Effect of nanoporosity on inflammatory cells Pujari, Shiuli; Hoess, Andreas; Shen, J. ...
European journal of clinical investigation,
2014, Letnik:
44, Številka:
S1
Journal Article
Aim: Usually, stabilization of central midface fractures (Le Fort I) is achieved by means of L-shaped titanium miniplates. Replacing titanium with polymeric materials like UHMWPE or PEEK requires ...adapted mechanical stability and improved biocompatibility of the polymeric materials. For this reason, beside suggestions for geometrical improvement, the polymeric materials were modified with nanoporous surfaces. Methods: UHMWPE (ultra high molecular weight polyethylene) and PEEK (polyetheretherketone) were laminated with HDPE (high density polyethylene) on both sides. Nanoporous surfaces were made by hot embossing with an alumina stamp having nanopores on top side. The nanopores were made by anodic oxidation of aluminum. Results: With vacuum lamination, an almost perfect adhesion of HDPE on UHMWPE was achieved. For making HDPE adhere on PEEK, additional medical grade glue was necessary. In both cases, peeling tests were performed to prove adhesion. Nanostructured HDPE surfaces were produced by using of two different stamps with mean pore sizes of 235 and 120 nm. Polymer nanostructures were investigatedy by Scanning Electron Microscopy (SEM). Biocompatibility was verified using cell culture of chondrocytes. Conclusions: Together with an optimization of mechanical properties by using finite element modelling (FEM), prototypes of polymeric implants having excellent biocompatibility were produced. As next step, the implants will be used for an animal study.