Associations of autozygosity with a broad range of human phenotypes

In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (F-ROH) for >1.4 million individuals, we show that F-ROH is significantly associated (p <0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: F-ROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44-66%] in the odds of having children. Finally, the effects of F-ROH are confirmed within full-sibling pairs, where the variation in F-ROH is independent of all environmental confounding.Peer reviewe

Dust in Supernovae and Supernova Remnants II: Processing and survival

Observations have recently shown that supernovae are efficient dust factories, as predicted for a long time by theoretical models. The rapid evolution of their stellar progenitors combined with their efficiency in precipitating refractory elements from the gas phase into dust grains make supernovae the major potential suppliers of dust in the early Universe, where more conventional sources like Asymptotic Giant Branch (AGB) stars did not have time to evolve. However, dust yields inferred from observations of young supernovae or derived from models do not reflect the net amount of supernova-condensed dust able to be expelled from the remnants and reach the interstellar medium. The cavity where the dust is formed and initially resides is crossed by the high velocity reverse shock which is generated by the pressure of the circumstellar material shocked by the expanding supernova blast wave. Depending on grain composition and initial size, processing by the reverse shock may lead to substantial dust erosion and even complete destruction. The goal of this review is to present the state of the art about processing and survival of dust inside supernova remnants, in terms of theoretical modelling and comparison to observations

Modelica - An International Effort to Design an Object-Oriented Modeling Language

A new uniform language called Modelica for physical modeling has been developed in an international effort. The main objective is to make it easy to exchange models and model libraries. The design approach builds on non-causal modeling with true ordinary differential and algebraic equations and the use of object-oriented constructs to facilitate reuse of modeling knowledge. The paper gives an overview of Modelica and plans for the further development