De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.

We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set of 802 trios. We observe an overrepresentation of de novo damaging variants in simplex, but not multiplex, families; we identify a high-confidence TD risk gene, CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3); we find that the genes mutated in TD patients are enriched for those related to cell polarity, suggesting a common pathway underlying pathobiology; and we confirm a statistically significant excess of de novo copy number variants in TD. Finally, we identify significant overlap of de novo sequence variants between TD and obsessive-compulsive disorder and de novo copy number variants between TD and autism spectrum disorder, consistent with shared genetic risk

Alternative Approaches to the Equilibrium Properties of Hard-Sphere Liquids

An overview of some analytical approaches to the computation of the structural and thermodynamic properties of single component and multicomponent hard-sphere fluids is provided. For the structural properties, they yield a thermodynamically consistent formulation, thus improving and extending the known analytical results of the Percus–Yevick theory. Approximate expressions for the contact values of the radial distribution functions and the corresponding analytical equations of state are also discussed. Extensions of this methodology to related systems, such as sticky hard spheres and squarewell fluids, as well as its use in connection with the perturbation theory of fluids are briefly addressed.