A short history of the first 3 years of the Community Genetics Network and its newsletter

When in 2007 it became clear that the Karger journal Community Genetics would change its name and scope, the first author started to establish an international, multidisciplinary e-mail network and a newsletter with papers authored by the members of the network. This paper reports on the first 3 years of the network. At the end of the 3-year period, there were 858 members, 50 newsletters had appeared, and almost 1,500 different papers from 458 journals had been cited. This model may serve as an example for others who want to bring together those sharing a common interest

Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes

This short communication deals with the questions of how to calculate the expected proportion of compound heterozygous patients among affected offspring of consanguineous parents, and how, from an observed proportion of compound heterozygotes, to calculate both the proportion of homozygotes not identical by descent and the frequency of pathogenic alleles in the population. This estimate of allele frequency may be useful when dealing with populations with a considerable number of consanguineous matings

Confirmation of Clinical Diagnosis in Requests for Prenatal Prediction of SMA Type I

The recent discovery of a major SMA-locus in the chromosomal region 5q makes it possible to carry out prenatal DNA studies in families in which a child with SMA type I has been born. Since direct mutation analysis is not yet possible, the reliability of prenatal prediction of SMA type I usually depends on the certainty of the clinical diagnosis in the index patient. Sixteen requests were received for DNA studies in couples who had had a previous child with SMA type I. After re-evaluation, the performance of prenatal diagnosis was rejected in four cases. Among the other twelve families prenatal DNA analysis of chorion villus biopsies has been carried out in three families. In all three cases the fetus had inherited the high-risk haplotypes from both parents, and the parents chose to terminate the pregnancy. An illustration of the prenatal DNA studies in one family is given. The importance of confirmation of the diagnosis SMA type I before performing DNA studies is emphasised

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

Background: Offspring of consanguineous couples are at increased risk of congenital disorders. The risk increases as parents are more closely related. Individuals that have the same degree of relatedness according to their pedigree, show variable genomic kinship coefficients. To investigate whether we can differentiate between couples with high- and low risk for offspring with congenital disorders, we have compared the genomic kinship coefficient of consanguineous parents with a child affected with an autosomal recessive disorder with that of consanguineous parents with only healthy children, corrected for the degree of pedigree relatedness. Methods: 151 consanguineous couples (73 cases and 78 controls) from 10 different ethnic backgrounds were genotyped on the Affymetrix platform and passed quality control checks. After pruning SNPs in linkage disequilibrium, 57,358 SNPs remained. Kinship coefficients were calculated using three different toolsets: PLINK, King and IBDelphi, yielding five different estimates (IBDelphi, PLINK (all), PLINK (by population), King robust (all) and King homo (by population)). We performed a one-sided Mann Whitney test to investigate whether the median relative difference regarding observed and expected kinship coefficients is bigger for cases than for controls. Furthermore, we fitted a mixed effects linear model to correct for a possible population effect. Results: Although the estimated degrees of genomic relatedness with the different toolsets show substantial variability, correlation measures between the different estimators demonstrated moderate to strong correlations. Controls have higher point estimates for genomic kinship coefficients. The one-sided Mann Whitney test did not show any evidence for a higher median relative difference for cases compared to controls. Neither did the regression analysis exhibit a positive association between case–control status and genomic kinship coefficient. Conclusions: In this case–control setting, in which we compared consanguineous couples corrected for degree of pedigree relatedness, a higher degree of genomic relatedness was not significantly associated with a higher likelihood of having an affected child. Further translational research should focus on which parts of the genome and which pathogenic mutations couples are sharing. Looking at relatedness coefficients by determining genome-wide SNPs does not seem to be an effective measure for prospective risk assessment in consanguineous parents

The Mind’s Eye on Personal Profiles: A Cognitive Perspective on Profile Elements that Inform Initial Trustworthiness Assessments in Virtual Project Teams

Rusman, E., Van Bruggen, J., Sloep, P., Valcke, M., & Koper, R. (2013). The Mind’s Eye on Personal Profiles: A Cognitive Perspective on Profile Elements that Inform Initial Trustworthiness Assessments and Social Awareness in Virtual Project Teams. Computer Supported Cooperative Work (CSCW), 22(2-3), 159-179.Collaboration in virtual project teams heavily relies on interpersonal trust, for which perceived trustworthiness is an important determinant. This study provides insight in the information that trustors value to assess a trustee’s professional trustworthiness in the initial phase of a virtual project team. We expect trustors in virtual teams to value those particular information elements that provide them with relevant cues of trust warranting properties of a trustee. We identified a list of commonly highly valued information elements to inform trustworthiness assessments (n=226). We then analysed explanations for preferences with the help of a theory-grounded coding scheme. Results show that respondents value those particular information elements that provide them with multiple cues to assess the trustworthiness of a trustee. This enables them to become aware of and assess the trustworthiness of another. Information elements that provide unique cues could not be identified. Insight in these information preferences can inform the design of artefacts, such as personal profile templates, to support acquaintanceships in the initial phase of a virtual project team

Search for new phenomena in final states with an energetic jet and large missing transverse momentum in pp collisions at √ s = 8 TeV with the ATLAS detector

Results of a search for new phenomena in final states with an energetic jet and large missing transverse momentum are reported. The search uses 20.3 fb−1 of √ s = 8 TeV data collected in 2012 with the ATLAS detector at the LHC. Events are required to have at least one jet with pT > 120 GeV and no leptons. Nine signal regions are considered with increasing missing transverse momentum requirements between Emiss T > 150 GeV and Emiss T > 700 GeV. Good agreement is observed between the number of events in data and Standard Model expectations. The results are translated into exclusion limits on models with either large extra spatial dimensions, pair production of weakly interacting dark matter candidates, or production of very light gravitinos in a gauge-mediated supersymmetric model. In addition, limits on the production of an invisibly decaying Higgs-like boson leading to similar topologies in the final state are presente