3,335 research outputs found

    Disordered enthalpy–entropy descriptor for high-entropy ceramics discovery

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    The need for improved functionalities in extreme environments is fuelling interest in high-entropy ceramics1,2,3. Except for the computational discovery of high-entropy carbides, performed with the entropy-forming-ability descriptor4, most innovation has been slowly driven by experimental means1,2,3. Hence, advancement in the field needs more theoretical contributions. Here we introduce disordered enthalpy–entropy descriptor (DEED), a descriptor that captures the balance between entropy gains and enthalpy costs, allowing the correct classification of functional synthesizability of multicomponent ceramics, regardless of chemistry and structure. To make our calculations possible, we have developed a convolutional algorithm that drastically reduces computational resources. Moreover, DEED guides the experimental discovery of new single-phase high-entropy carbonitrides and borides. This work, integrated into the AFLOW computational ecosystem, provides an array of potential new candidates, ripe for experimental discoveries

    Idiopathic pulmonary fibrosis is associated with common genetic variants and limited rare variants

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    Rationale: Idiopathic pulmonary fibrosis is a rare, irreversible, and progressive disease of the lungs. Common genetic variants, in addition to non-genetic factors, have been consistently associated with IPF. Rare variants identified by candidate gene, family-based, and exome studies have also been reported to associate with IPF. However, the extent to which rare variants genome-wide may contribute to the risk of IPF remains unknown. Objectives: We used whole-genome sequencing to investigate the role of rare variants, genome-wide, on IPF risk. Methods: As part of the Trans-Omics for Precision Medicine Program, we sequenced 2,180 cases of IPF. Association testing focused on the aggregated effect of rare variants (minor allele frequency ≀0.01) within genes or regions. We also identified individual variants that are influential within genes and estimated the heritability of IPF based on rare and common variants. Measurements and Main Results: Rare variants in both TERT and RTEL1 were significantly associated with IPF. A single rare variant in each of the TERT and RTEL1 genes was found to consistently influence the aggregated test statistics. There was no significant evidence of association with other previously reported rare variants. The SNP-heritability of IPF was estimated to be 32% (s.e. 3%). Conclusions: Rare variants within the TERT and RTEL1 genes and well-established common variants have the largest contribution to IPF risk overall. Efforts in risk profiling or development of therapies for IPF that focus on TERT, RTEL1, common variants, and environmental risk factors are likely to have the largest impact on this complex disease

    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

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    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 “ClinVar low-hanging fruit” 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 “ClinVar low-hanging fruit” 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

    179^{179}Ta(n, Îł) cross-section measurement and the astrophysical origin of the 180^{180}Ta isotope

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    180m^{180m}Ta is nature\u27s rarest (quasi) stable isotope and its astrophysical origin is an open question. A possible production site of this isotope is the slow neutron capture process in asymptotic giant branch stars, where it can be produced via neutron capture reactions on unstable 179^{179}Ta. We report a new measurement of the 179^{179}Ta(n,Îł) 180^{180}Ta cross section at thermal-neutron energies via the activation technique. Our results for the thermal and resonance-integral cross sections are 952±57 and 2013±148 b, respectively. The thermal cross section is in good agreement with the only previous measurement [Phys. Rev. C 60, 025802 (1999)], while the resonance integral is different by a factor of ≈1.7. While neutron energies in this work are smaller than the energies in a stellar environment, our results may lead to improvements in theoretical predictions of the stellar cross section

    179Ta(n,Îł) cross-section measurement and the astrophysical origin of the 180Ta isotope

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    Tantalum-180m is nature's rarest (quasi) stable isotope and its astrophysical origin is an open question. A possible production site of this isotope is the slow neutron capture process in Asymptotic Giant Branch stars, where it can be produced via neutron capture reactions on unstable 179^{179}Ta. We report a new measurement of the 179^{179}Ta(n,Îłn,\gamma)180^{180}Ta cross section at thermal neutron energies via the activation technique. Our results for the thermal and resonance-integral cross-sections are 952 ±\pm 57 b and 2013 ±\pm 148 b, respectively. The thermal cross section is in good agreement with the only previous measurement (Phys. Rev C {\bf 60} 025802, 1999), while the resonance integral is different by a factor of ≈\approx1.7. While neutron energies in this work are smaller than the energies in a stellar environment, our results may lead to improvements in theoretical predictions of the stellar cross section

    New detection systems for an enhanced sensitivity in key stellar (n,Îł) measurements

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    Neutron capture cross-section measurements are fundamental in the study of astrophysical phenomena, such as the slow neutron capture (s-) process of nucleosynthesis operating in red-giant and massive stars. However, neutron capture measurements via the time-of-flight (TOF) technique on key s-process nuclei are often challenging. Difficulties arise from the limited mass (∌mg) available and the high sample-related background in the case of the unstable s-process branching points. Measurements on neutron magic nuclei, that act as s-process bottlenecks, are affected by low (n,Îł) cross sections and a dominant neutron scattering background. Overcoming these experimental challenges requires the combination of facilities with high instantaneous flux, such as n_TOFEAR2, with detection systems with an enhanced detection sensitivity and high counting rate capabilities. This contribution reviews some of the latest detector developments in detection systems for (n,Îł) measurements at n_TOF, such as i-TED, an innovative detection system which exploits the Compton imaging technique to reduce the dominant neutron scattering background and s-TED, a highly segmented total energy detector intended for high flux facilities. The discussion will be illustrated with results of the first measurement of key the s-process branching-point reaction 79Se(n,Îł).Title in Web of Science: New detection systems for an enhanced sensitivity in key stellar (n,gamma) measurements</p

    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

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    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 “ClinVar low-hanging fruit” 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 “ClinVar low-hanging fruit” 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

    On the accuracy of cross-section measurements of neutron-induced reactions using the activation technique with natural targets: The case of Ge at E<math altimg="si5.svg" display="inline" id="d1e1043"><mrow><msub><mrow/><mrow><mi mathvariant="normal">n</mi></mrow></msub><mo linebreak="goodbreak" linebreakstyle="after">=</mo><mn>17</mn><mo>.</mo><mn>9</mn></mrow></math> MeV

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    International audienceSeveral cross-section measurements of neutron-induced reactions on Ge found in literature, are performed utilizing natGe targets. The production of the same residual nucleus as the measured one might occur as a result of the unavoidable presence of neighboring isotopes in the same target, acting as a contamination. Corrections must be made based on theoretical calculations and models in order to resolve this problem. The accuracy and limits of a methodology for these “theoretical corrections” are investigated in this work using isotopically enriched targets, which can produce very accurate results without the need for such corrections. Experimental cross-section measurements have been made for the 76Ge(n,2n)75Ge, 72Ge(n,α)69mZn and 72Ge(n,p)72Ga reactions, via the activation technique, with the 27Al(n,α)24Na reaction used as reference, employing both a natGe and isotopically enriched Ge targets. The 3H(d,n)4He (D–T) reaction was used for producing the quasi-monoenergetic neutron beam in the 5.5 MV Tandem Accelerator Laboratory of the National Centre for Scientific Research “Demokritos” in Athens, Greece, at an incident deuteron beam energy of 2.9 MeV. Using HPGe detectors, Îł-ray spectroscopy was applied to determine the induced Îł-ray activity of the residual nuclei. ‱Cross section measurements with natural Ge targets need to be corrected for contaminations from neighboring isotopes‱A methodology is proposed for the correction of the contribution from parasitic channels‱The accuracy and limits of the methodology are investigated with two sets of measurements‱Enriched and natural Ge targets were employed for cross-section measurements via the activation techniqu

    High resolution

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    Neutron capture cross section measurements of isotopes close to s-process branching-points are of fundamental importance for the understanding of this nucleosynthesis mechanism through which about 50% of the elements heavier than iron are produced. We present in this contribution the results corresponding to the high resolution measurement, for first time ever, of the 80Se(n, Îł) cross section, in which 98 resonances never measured before have been reported. As a consequence, ten times more precise values for the MACS have been obtained compared to previous accepted value adopted in the astrophysical KADoNiS data base

    Measurement of the 77Se(n,Îł)^{77}Se ( n , Îł ) cross section up to 200 keV at the n_TOF facility at CERN

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    The 77Se(n,γ)^{77}Se ( n , γ ) reaction is of importance for 77Se^{77}Se abundance during the slow neutron capture process in massive stars. We have performed a new measurement of the 77Se^{77}Se radiative neutron capture cross section at the Neutron Time-of-Flight facility at CERN. Resonance capture kernels were derived up to 51 keV and cross sections up to 200 keV. Maxwellian-averaged cross sections were calculated for stellar temperatures between kT=5 keVkT=5 \space keV and kT=100 keVkT=100\space keV, with uncertainties between 4.2% and 5.7%. Our results lead to substantial decreases of 14% and 19% in 77Se^{77}Se abundances produced through the slow neutron capture process in selected stellar models of 15M⊙15M⊙ and 2M⊙2M⊙, respectively, compared to using previous recommendation of the cross section
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