37 research outputs found
The Fourteenth Data Release of the Sloan Digital Sky Survey: First Spectroscopic Data from the extended Baryon Oscillation Spectroscopic Survey and from the second phase of the Apache Point Observatory Galactic Evolution Experiment
The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) has been in
operation since July 2014. This paper describes the second data release from
this phase, and the fourteenth from SDSS overall (making this, Data Release
Fourteen or DR14). This release makes public data taken by SDSS-IV in its first
two years of operation (July 2014-2016). Like all previous SDSS releases, DR14
is cumulative, including the most recent reductions and calibrations of all
data taken by SDSS since the first phase began operations in 2000. New in DR14
is the first public release of data from the extended Baryon Oscillation
Spectroscopic Survey (eBOSS); the first data from the second phase of the
Apache Point Observatory (APO) Galactic Evolution Experiment (APOGEE-2),
including stellar parameter estimates from an innovative data driven machine
learning algorithm known as "The Cannon"; and almost twice as many data cubes
from the Mapping Nearby Galaxies at APO (MaNGA) survey as were in the previous
release (N = 2812 in total). This paper describes the location and format of
the publicly available data from SDSS-IV surveys. We provide references to the
important technical papers describing how these data have been taken (both
targeting and observation details) and processed for scientific use. The SDSS
website (www.sdss.org) has been updated for this release, and provides links to
data downloads, as well as tutorials and examples of data use. SDSS-IV is
planning to continue to collect astronomical data until 2020, and will be
followed by SDSS-V.Comment: SDSS-IV collaboration alphabetical author data release paper. DR14
happened on 31st July 2017. 19 pages, 5 figures. Accepted by ApJS on 28th Nov
2017 (this is the "post-print" and "post-proofs" version; minor corrections
only from v1, and most of errors found in proofs corrected
Mesenchymal Transition and PDGFRA Amplification/Mutation Are Key Distinct Oncogenic Events in Pediatric Diffuse Intrinsic Pontine Gliomas
Diffuse intrinsic pontine glioma (DIPG) is one of the most frequent malignant pediatric brain tumor and its prognosis is universaly fatal. No significant improvement has been made in last thirty years over the standard treatment with radiotherapy. To address the paucity of understanding of DIPGs, we have carried out integrated molecular profiling of a large series of samples obtained with stereotactic biopsy at diagnosis. While chromosomal imbalances did not distinguish DIPG and supratentorial tumors on CGHarrays, gene expression profiling revealed clear differences between them, with brainstem gliomas resembling midline/thalamic tumours, indicating a closely-related origin. Two distinct subgroups of DIPG were identified. The first subgroup displayed mesenchymal and pro-angiogenic characteristics, with stem cell markers enrichment consistent with the possibility to grow tumor stem cells from these biopsies. The other subgroup displayed oligodendroglial features, and appeared largely driven by PDGFRA, in particular through amplification and/or novel missense mutations in the extracellular domain. Patients in this later group had a significantly worse outcome with an hazard ratio for early deaths, ie before 10 months, 8 fold greater that the ones in the other subgroup (pâ=â0.041, Cox regression model). The worse outcome of patients with the oligodendroglial type of tumors was confirmed on a series of 55 paraffin-embedded biopsy samples at diagnosis (median OS of 7.73 versus 12.37 months, pâ=â0.045, log-rank test). Two distinct transcriptional subclasses of DIPG with specific genomic alterations can be defined at diagnosis by oligodendroglial differentiation or mesenchymal transition, respectively. Classifying these tumors by signal transduction pathway activation and by mutation in pathway member genes may be particularily valuable for the development of targeted therapies
The Fourteenth Data Release of the Sloan Digital Sky Survey: First Spectroscopic Data from the Extended Baryon Oscillation Spectroscopic Survey and from the Second Phase of the Apache Point Observatory Galactic Evolution Experiment
The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) has been in operation since 2014 July. This paper describes the second data release from this phase, and the 14th from SDSS overall (making this Data Release Fourteen or DR14). This release makes the data taken by SDSS-IV in its first two years of operation (2014â2016 July) public. Like all previous SDSS releases, DR14 is cumulative, including the most recent reductions and calibrations of all data taken by SDSS since the first phase began operations in 2000. New in DR14 is the first public release of data from the extended Baryon Oscillation Spectroscopic Survey; the first data from the second phase of the Apache Point Observatory (APO) Galactic Evolution Experiment (APOGEE-2), including stellar parameter estimates from an innovative data-driven machine-learning algorithm known as "The Cannon"; and almost twice as many data cubes from the Mapping Nearby Galaxies at APO (MaNGA) survey as were in the previous release (N = 2812 in total). This paper describes the location and format of the publicly available data from the SDSS-IV surveys. We provide references to the important technical papers describing how these data have been taken (both targeting and observation details) and processed for scientific use. The SDSS web site (www.sdss.org) has been updated for this release and provides links to data downloads, as well as tutorials and examples of data use. SDSS-IV is planning to continue to collect astronomical data until 2020 and will be followed by SDSS-V
Search for high-energy neutrino emission from hard X-ray AGN with IceCube
Active Galactic Nuclei (AGN) are powerful astronomical objects with very high luminosities. Theoretical arguments suggest that these objects are capable of accelerating particles to energies of 1020 eV. In environments with matter or photon targets, cosmic-ray interactions transpire leading to the production of pionic gamma rays and neutrinos. Since the AGN environment is rich in gas, dust and photons, they are promising candidate sources of high-energy astrophysical neutrinos. While the neutrinos manage to escape, the gamma rays may further interact and cascade down to hard X-rays in environments with sufficiently large photon or gas targets. We have used 12 years of IceCube data to perform a stacked search and a point source search for high-energy neutrino emission from hard X-ray AGN sampled from Swift-BAT Spectroscopic Survey (BASS) and present the results of these two analyses
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Purpose
Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the âClinVar low-hanging fruitâ reanalysis, reasons for the failure of previous analyses, and lessons learned.
Methods
Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted.
Results
We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency).
Conclusion
The âClinVar low-hanging fruitâ analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock
Estimation of transverse tensile behavior of Zircaloy pressure tubes using ring-tensile test and finite element analysis
Micro-mécanismes d'endommagement des zircaloy hydrurés: Essais in-situ et modélisation
No abstract provide
Ătude expĂ©rimentale des micro-mĂ©canismes d'endommagement et de rupture des zircaloy hydrurĂ©s
Afin de mieux comprendre les mécanismes d'endommagement et de rupture des Zircaloy, des
essais de traction sur anneaux ont été réalisés in-situ sous MEB sur des éprouvettes de tube de gainage
de combustible, contenant environ 150 ppm d'hydrogÚne et avec différentes orientations d'hydrures : de
circonférentielle à radiale. Ces essais ont mis en évidence deux modes de rupture selon l'orientation des
hydrures. Les Ă©prouvettes avec hydrures radiaux (perpendiculaires Ă la sollicitation) rompent
brutalement par propagation d'une fissure suivant un chemin d'hydrures radiaux alignés. Les niveaux de
déformation au voisinage de la fissure, estimés par des techniques de micro-électrolithographie
associées à celle d'analyse par corrélation d'images, sont trÚs faibles, de l'ordre du %. En revanche, dans
celles avec hydrures circonférentiels (suivant l'axe de sollicitation), les effets de structure prédominent :
des bandes de cisaillement macroscopique apparaissent, dans lesquelles la déformation se localise. En
dehors de ces zones de localisation intense, la déformation reste inférieure à 10% et trÚs peu
d'endommagement par germination de cavités ou fissuration d'hydrures a été observé. Les
hétérogénéités du champ local de déformation, corrélées à la présence des hydrures, semblent établir
l'influence de ceux-ci sur le mode de dĂ©formation local, mais ces observations nĂ©cessitent d'ĂȘtre confirmĂ©es
Etude expérimentale micromécanique de la déformation, de l'endommagement et de la rupture des alliages à base zirconium hydrurés
No abstract provide
Simulation of hard particle impact on a TI-6Al-4V substrate coated by a W film produced by magnetron sputtering
No abstract provide