Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

International audienceAutism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs

Telescopes in the mirror of scientometrics

Counting papers and citations is one way to estimate the significance of particular astronomical telescopes and other facilities in the long time gap between the verdict of history and the referee’s report on your most recent proposal. This has been done for 2,184 observational astronomy papers published between 1960 and 1964 (with 14,237 citations in 1965–1969) and the numbers looked at in various ways. The extreme dominance of California in optical astronomy and of the UK and Australia in radio astronomy provides the background against which ESO, NOAO, NRAO, and A&A were founded, with equality of access to facilities having increased enormously in the intervening 40 years, but inequality of results having increased slightly. A number of other factoids about astronomical publications, the community, and their environments surfaced during the counting process, and a subset reported here, including a few pertaining to the more distant past

Crowdsourcing for Cognitive Science – The Utility of Smartphones

By 2015, there will be an estimated two billion smartphone users worldwide. This technology presents exciting opportunities for cognitive science as a medium for rapid, large-scale experimentation and data collection. At present, cost and logistics limit most study populations to small samples, restricting the experimental questions that can be addressed. In this study we investigated whether the mass collection of experimental data using smartphone technology is valid, given the variability of data collection outside of a laboratory setting. We presented four classic experimental paradigms as short games, available as a free app and over the first month 20,800 users submitted data. We found that the large sample size vastly outweighed the noise inherent in collecting data outside a controlled laboratory setting, and show that for all four games canonical results were reproduced. For the first time, we provide experimental validation for the use of smartphones for data collection in cognitive science, which can lead to the collection of richer data sets and a significant cost reduction as well as provide an opportunity for efficient phenotypic screening of large populations