Gaia early data release 3: summary of the contents and survey properties (Corrigendum)

ERRATUMThis article is an erratum for:[https://doi.org/10.1051/0004-6361/202039657]​​​​​​​Instrumentatio

Multiply imaged quasars in the Gaia DR1

International audienc

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

Kim et al. identify novel genes and disease pathways in the forebrain developmental disorder holoprosencephaly, and show that many cases involve oligogenic inheritance. The findings underline the roles of Sonic Hedgehog and primary cilia in forebrain development, and show that integrating clinical phenotyping into genetic studies can uncover relevant mutations.Holoprosencephaly is a pathology of forebrain development characterized by high phenotypic heterogeneity. The disease presents with various clinical manifestations at the cerebral or facial levels. Several genes have been implicated in holoprosencephaly but its genetic basis remains unclear: different transmission patterns have been described including autosomal dominant, recessive and digenic inheritance. Conventional molecular testing approaches result in a very low diagnostic yield and most cases remain unsolved. In our study, we address the possibility that genetically unsolved cases of holoprosencephaly present an oligogenic origin and result from combined inherited mutations in several genes. Twenty-six unrelated families, for whom no genetic cause of holoprosencephaly could be identified in clinical settings [whole exome sequencing and comparative genomic hybridization (CGH)-array analyses], were reanalysed under the hypothesis of oligogenic inheritance. Standard variant analysis was improved with a gene prioritization strategy based on clinical ontologies and gene co-expression networks. Clinical phenotyping and exploration of cross-species similarities were further performed on a family-by-family basis. Statistical validation was performed on 248 ancestrally similar control trios provided by the Genome of the Netherlands project and on 574 ancestrally matched controls provided by the French Exome Project. Variants of clinical interest were identified in 180 genes significantly associated with key pathways of forebrain development including sonic hedgehog (SHH) and primary cilia. Oligogenic events were observed in 10 families and involved both known and novel holoprosencephaly genes including recurrently mutated FAT1, NDST1, COL2A1 and SCUBE2. The incidence of oligogenic combinations was significantly higher in holoprosencephaly patients compared to two control populations (P < 10(9)). We also show that depending on the affected genes, patients present with particular clinical features. This study reports novel disease genes and supports oligogenicity as clinically relevant model in holoprosencephaly. It also highlights key roles of SHH signalling and primary cilia in forebrain development. We hypothesize that distinction between different clinical manifestations of holoprosencephaly lies in the degree of overall functional impact on SHH signalling. Finally, we underline that integrating clinical phenotyping in genetic studies is a powerful tool to specify the clinical relevance of certain mutations.Molecular Technology and Informatics for Personalised Medicine and Healt

The PHEMU09 catalogue and astrometric results of the observations of the mutual occultations and eclipses of the Galilean satellites of Jupiter made in 2009

Context. In 2009, the Sun and the Earth passed through the equatorial plane of Jupiter and therefore the orbital planes of its main satellites. It was the equinox on Jupiter. This occurrence made mutual occultations and eclipses between the satellites possible. Experience has shown that the observations of such events provide accurate astrometric data able to bring new information on the dynamics of the Galilean satellites. Observations are made under the form of photometric measurements, but need to be made through the organization of a worldwide observation campaign maximizing the number and the quality of the data obtained. Aims. This work focuses on processing the complete database of photometric observations of the mutual occultations and eclipses of the Galilean satellites of Jupiter made during the international campaign in 2009. The final goal is to derive new accurate astrometric data. Methods. We used an accurate photometric model of mutual events adequate with the accuracy of the observation. Our original method was applied to derive astrometric data from photometric observations of mutual occultations and eclipses of the Galilean satellites of Jupiter. Results. We processed the 457 lightcurves obtained during the international campaign of photometric observations of the Galilean satellites of Jupiter in 2009. Compared with the theory, for successful observations, the r.m.s. of O-C residuals are equal to 45.8 mas and 81.1 mas in right ascension and declination, respectively; the mean O-C residuals are equal to -2 mas and -9 mas in right ascension and declination, respectively, for mutual occultations; and -6 mas and +1 mas in right ascension and declination, respectively, for mutual eclipses. © ESO, 2014

Gaia early data release 3: summary of the contents and survey properties

Instrumentatio

Study of the leptonic decays of the ZO Boson

Measurements are presented of the cross section ratios Rℓ = σℓ(e+e-→ℓ+ℓ -)/σhh(e+e-→hadrons) for ℓ = e, μ and τ using data taken from a scan around the Z0. The results are Re = (5.09±0.32±0.18)%, Rμ = (4.96±0.35±0.17)% and Rτ,=(4.72±0.38± 0.29)% where, for the ratio Re, the t-channel contribution has been subtracted. These results are consistent with the hypothesis of lepton universality and test this hypothesis at the energy scale s ∼ 8300 GeV2. The absolute cross sections σℓ(e+e-→ℓ +ℓ-) have also been measured. From the cross sections the leptonic partial widths Γe = (83.2±3.0±2.4) MeV, (ΓeΓμ) 1/2=(84.6±3.0±2.4) MeV and (ΓeΓτ) 1/2=(82.6±3.3±3.2) MeV have been extracted. Assuming lepton universality the ratio Γℓ/Γh=(4.89±0.20± 0.12) × 10-2 was obtained, together with Γℓ=(83.6±1.8±2.2) MeV. The number of light neutrino species is determined to be Nv=3.12±0.24±0.25. Al the data are consistent with the predictions of the standard model.0SCOPUS: ar.jinfo:eu-repo/semantics/publishe