A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Predikce vývoje poklesové kotliny

An extensive network of points was repeatedly surveyed by GPS method to monitor the surface manifestations of undermining in the Louky locality near Karvina from 2006 to 2011. The aim was not only to record the development of the creating subsidence depression, its range, size of subsidence and horizontal shifts, but the task was also to predict the future state in the area. Such information is essential for planning surface reclamation and other uses of the undermined areas. Prediction of further development on the basis of GPS data and theoretical knowledge of the subsidence depression development was provided by regression analysis.V letech 2006 až 2011 byla v lokalitě Louky v blízkosti Karviné opakovaně metodou GPS zaměřována rozsáhlá síť bodů s cílem sledovat povrchové projevy poddolování. Vedle zaznamenání vývoje vznikající poklesové kotliny, jejího rozsahu, velikostí poklesů a posunů, bylo naším úkolem stanovit předpokládaný budoucí stav v dané lokalitě. Tyto informace jsou podstatné při plánování rekultivací a dalšího využití poddolovaných oblastí. Predikci dalšího vývoje na základě dat z provedených GPS měření a teoretických znalostí vývoje poklesové kotliny poskytla regresní analýza

IMAGE AS THE ELEMENTS OF ATTRACTIVENESS OF THE DESTINATIONS OF THE NATURE-ORIENTED TOURISM

Abstract NAVRÁTIL, J., PÍCHA, K., NAVRÁTILOVÁ, J., ŠVEC, R., DOLEŽALOVÁ, H.: Image as the elements of attractiveness of the destinations of the nature-oriented tourism. Acta univ. agric. et silvic. Mendel. Brun., 2012, LX, No. 4, pp. 281-288 The aim of this paper is to assess the relations between partial components of image of various touristically attractive locations. This research is focused on specifi c locations in vulnerable areas since the sustainable way of the tourism development concerns them in the highest manner and the touristic pressure on these locations permanently increases. The paper makes eff ort to extend the usual and nearly traditional understanding of the image in the tourism, which is usually related only to the problems of brand and/or the tourist destination. This is done through a survey realized at 26 selected locations with the aim to obtain 64 completely fi lled-in questionnaires in each location. Particular statements of respondents concerning the image of the visited location were summarized to the 20 categories. A multidimensional analysis was used to reveal the relations in partial answers. Authors have identifi ed an important number of elements of image of the tourist attractions. By means of the analysis authors have identifi ed diff erences between historic attractions and nature attractions. However, authors have identifi ed simultaneously both the natural type of the image of the destination and the culture-historical type of image of the destination in all studied locations. image, destination, nature-oriented tourism, PCA analysi

Teachers' ideas about Multicultural Education in a Changing Society: the case of the Czech Republic

Contains fulltext : 73500.pdf (publisher's version ) (Open Access)This article draws on Czech teachers' ideas about multicultural education at a time when the teaching of multicultural education has become obligatory for primary and secondary schools. After describing the broader context within which this reform has taken place - specifically, the transformation of the educational system and the changing ethnic mosaic of the Czech Republic - the authors present results of a qualitative research study of Czech teachers' ideas about multicultural education