The 6df galaxy survey: The near-infrared fundamental plane of early-type galaxies

We determine the near-infrared Fundamental Plane (FP) for ~10 4 early-type galaxies in the 6-degree Field Galaxy Survey (6dFGS). We fit the distribution of central velocity dispersion, near-infrared surface brightness and half-light radius with a 3D Gaussian model using a maximum-likelihood method. The model provides an excellent empirical fit to the observed FP distribution and the method proves robust and unbiased. Tests using simulations show that it gives superior results to regression techniques in the presence of significant and correlated uncertainties in all three parameters, censoring of the data by various selection effects and outliers in the data sample. For the 6dFGS J-band sample we find an FP with Re∝σ01.52±0.03Ie-0.89±0.01, similar to previous near-infrared determinations and consistent with the H- and K-band FPs once allowance is made for differences in mean colour. The overall scatter in R e about the FP is σ r = 29 per cent, and is the quadrature sum of an 18 per cent scatter due to observational errors and a 23 per cent intrinsic scatter. Because of the Gaussian distribution of galaxies in FP space, σ r is not the distance error, which we find to be σ d = 23 per cent. Using group richness and local density as measures of environment, and morphologies based on visual classifications, we find that the FP slopes do not vary with environment or morphology. However, for fixed velocity dispersion and surface brightness, field galaxies are on average 5 per cent larger than galaxies in groups or higher density environments, and the bulges of early-type spirals are on average 10 per cent larger than ellipticals and lenticulars. The residuals about the FP show significant trends with environment, morphology and stellar population. The strongest trend is with age, and we speculate that age is the most important systematic source of offsets from the FP, and may drive the other trends through its correlations with environment, morphology and metallicity. These results will inform our use of the near-infrared FP in deriving relative distances and peculiar velocities for 6dFGS galaxies

The 6dF galaxy survey: Fundamental Plane data

We report the 6dFGS Fundamental Plane (6dFGSv) catalogue that is used to estimate distances and peculiar velocities for nearly 9000 early-type galaxies in the local (z < 0.055) universe. Velocity dispersions are derived by cross-correlation from 6dF V

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

TRAF7 is a multi-functional protein involved in diverse signaling pathways and cellular processes. The phenotypic consequence of germ-line TRAF7 variants remains unclear. Here we report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. The seven individuals share substantial phenotypic overlap, with developmental delay, congenital heart defects, limb and digital anomalies, and dysmorphic features emerging as key unifying features. The identified variants are de novo in six individuals and comprise four distinct missense changes, including a c.1964G>A (p.Arg655Gln) variant that is recurrent in four individuals. These variants affect evolutionarily conserved amino acids and are located in key functional domains. Gene-specific mutation rate analysis showed that the occurrence of the de novo variants in TRAF7 (p = 2.6 x 10(-3)) and the recurrent de novo c.1964G>A (p.Arg655Gln) variant (p = 1.9 x 10(-8)) in our exome cohort was unlikely to have occurred by chance. In vitro analyses of the observed TRAF7 mutations showed reduced ERK1/2 phosphorylation. Our findings suggest that missense mutations in TRAF7 are associated with a multisystem disorder and provide evidence of a role for TRAF7 in human development

Reanalysis of Clinical Exome Sequencing Data

As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. This study showed that a reanalysis of data initially analyzed about 6 years ago almost doubled the diagnostic yield and that a semiautomated approach to sequence analysis had a diagnostic sensitivity of 92.9%