Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.

Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes. We follow three missense variants with a complete deficit of homozygosity and find that their pathogenic effect in homozygous state ranges from severe childhood disease to early embryonic lethality.

Diffusion characteristics of vitreous humour and saline solution follow the Stokes Einstein equation.

Purpose: The Stokes-Einstein equation predicts that diffusion is inversely correlated with viscosity of the medium. This predicts that diffusion fluxes should be lower in vitreous humour than in saline solution with lower viscosity. We test this hypothesis, which has implications for vitrectomy.