71 research outputs found

    Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

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    Background: Offspring of consanguineous couples are at increased risk of congenital disorders. The risk increases as parents are more closely related. Individuals that have the same degree of relatedness according to their pedigree, show variable genomic kinship coefficients. To investigate whether we can differentiate between couples with high- and low risk for offspring with congenital disorders, we have compared the genomic kinship coefficient of consanguineous parents with a child affected with an autosomal recessive disorder with that of consanguineous parents with only healthy children, corrected for the degree of pedigree relatedness. Methods: 151 consanguineous couples (73 cases and 78 controls) from 10 different ethnic backgrounds were genotyped on the Affymetrix platform and passed quality control checks. After pruning SNPs in linkage disequilibrium, 57,358 SNPs remained. Kinship coefficients were calculated using three different toolsets: PLINK, King and IBDelphi, yielding five different estimates (IBDelphi, PLINK (all), PLINK (by population), King robust (all) and King homo (by population)). We performed a one-sided Mann Whitney test to investigate whether the median relative difference regarding observed and expected kinship coefficients is bigger for cases than for controls. Furthermore, we fitted a mixed effects linear model to correct for a possible population effect. Results: Although the estimated degrees of genomic relatedness with the different toolsets show substantial variability, correlation measures between the different estimators demonstrated moderate to strong correlations. Controls have higher point estimates for genomic kinship coefficients. The one-sided Mann Whitney test did not show any evidence for a higher median relative difference for cases compared to controls. Neither did the regression analysis exhibit a positive association between case–control status and genomic kinship coefficient. Conclusions: In this case–control setting, in which we compared consanguineous couples corrected for degree of pedigree relatedness, a higher degree of genomic relatedness was not significantly associated with a higher likelihood of having an affected child. Further translational research should focus on which parts of the genome and which pathogenic mutations couples are sharing. Looking at relatedness coefficients by determining genome-wide SNPs does not seem to be an effective measure for prospective risk assessment in consanguineous parents

    Grain Surface Models and Data for Astrochemistry

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    AbstractThe cross-disciplinary field of astrochemistry exists to understand the formation, destruction, and survival of molecules in astrophysical environments. Molecules in space are synthesized via a large variety of gas-phase reactions, and reactions on dust-grain surfaces, where the surface acts as a catalyst. A broad consensus has been reached in the astrochemistry community on how to suitably treat gas-phase processes in models, and also on how to present the necessary reaction data in databases; however, no such consensus has yet been reached for grain-surface processes. A team of ∼25 experts covering observational, laboratory and theoretical (astro)chemistry met in summer of 2014 at the Lorentz Center in Leiden with the aim to provide solutions for this problem and to review the current state-of-the-art of grain surface models, both in terms of technical implementation into models as well as the most up-to-date information available from experiments and chemical computations. This review builds on the results of this workshop and gives an outlook for future directions

    New Code-Based Privacy-Preserving Cryptographic Constructions

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    Code-based cryptography has a long history but did suffer from periods of slow development. The field has recently attracted a lot of attention as one of the major branches of post-quantum cryptography. However, its subfield of privacy-preserving cryptographic constructions is still rather underdeveloped, e.g., important building blocks such as zero-knowledge range proofs and set membership proofs, and even proofs of knowledge of a hash preimage, have not been known under code-based assumptions. Moreover, almost no substantial technical development has been introduced in the last several years. This work introduces several new code-based privacy-preserving cryptographic constructions that considerably advance the state-of-the-art in code-based cryptography. Specifically, we present 33 major contributions, each of which potentially yields various other applications. Our first contribution is a code-based statistically hiding and computationally binding commitment scheme with companion zero-knowledge (ZK) argument of knowledge of a valid opening that can be easily extended to prove that the committed bits satisfy other relations. Our second contribution is the first code-based zero-knowledge range argument for committed values, with communication cost logarithmic in the size of the range. A special feature of our range argument is that, while previous works on range proofs/arguments (in all branches of cryptography) only address ranges of non-negative integers, our protocol can handle signed fractional numbers, and hence, can potentially find a larger scope of applications. Our third contribution is the first code-based Merkle-tree accumulator supported by ZK argument of membership, which has been known to enable various interesting applications. In particular, it allows us to obtain the first code-based ring signatures and group signatures with logarithmic signature sizes

    Evapotranspiration en zone semi-aride de deux couverts vegetaux (gazon, ble) obtenue par plusieurs methodes. II. Methodes neutroniques et tensiometriques

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    National audienceWater balance under two crops (rain-fed wheat and irrigated grass) was evaluated during two consecutive years in an experimental field near Tunis by the use of a neutron probe and tensiometers. Special care was given to the selection of spatially representative sites of measurement. Values of actual evapotranspiration measurements every two weeks were compared with estimates of potential evapotranspiration obtained by the PENMAN formula as modified by Riou & CHARTIER (first part of this paper). If measurement sites properly selected for their spatial representativity, soil measurements of evapotranspiration agree very well with potential estimations so long as soil water is not a limiting factor. During this period, water consumption by wheat was higher than by grass as suggested by the climatological results obtained by Riou & CHARTIER. The soil water balance method was highly questionable for estimating evapotranspiration rates in the case of heavy rainfall leading to runoff. In this case, climatological determination of potential evapotranspiration coupled with water balance measurements in the soil could be used to estimate runoff.On présente les résultats d’évaluations de l’évapotranspiration réelle d’une culture pluviale de blé (sur 10 000 m2) et d’un gazon irrigué (sur 4 000 m2) effectuées près de Tunis pendant 2 années consécutives, par l’utilisation simultanée d’un humidimètre à neutrons et de tensiomètres. L’implantation des sites de mesures (un site pour le gazon ; 4 sites pour le blé) a donné lieu à une étude spécifique afin de juger leur représentativité spatiale. Les évapotranspirations observées par période moyenne de 2 semaines sont comparées aux estimations par la formule de Penman modifiée selon Riou & CHARTIER (1 partie de cet article). On montre que si l’on prend soin de sélectionner les sites de mesures pour leur représentativité spatiale, les mesures d’évapotranspiration sont tout à fait comparables aux estimations d’évapotranspiration potentielle tant que la réserve hydrique du sol n’est pas limitante. Ces mesures confirment que durant cette phase, la consommation du blé est supérieure à celle du gazon, comme le suggèrent les résultats présentés par Riou & CHARTIER. Il est également mis en évidence que la méthode du bilan hydrique pose problème pour évaluer l’évapotranspiration lors de pluies intenses ou d’irrigations non uniformes conduisant à du ruissellement. Dans ce cas, l’estimation climatologique de l’évapotranspiration potentielle, couplée aux mesures du bilan hydrique dans le sol, permet d’estimer le ruissellement

    Evapotranspiration en zone semi-aride de deux couverts vegetaux (gazon, ble) obtenue par plusieurs methodes. II. Methodes neutroniques et tensiometriques

    No full text
    National audienceWater balance under two crops (rain-fed wheat and irrigated grass) was evaluated during two consecutive years in an experimental field near Tunis by the use of a neutron probe and tensiometers. Special care was given to the selection of spatially representative sites of measurement. Values of actual evapotranspiration measurements every two weeks were compared with estimates of potential evapotranspiration obtained by the PENMAN formula as modified by Riou & CHARTIER (first part of this paper). If measurement sites properly selected for their spatial representativity, soil measurements of evapotranspiration agree very well with potential estimations so long as soil water is not a limiting factor. During this period, water consumption by wheat was higher than by grass as suggested by the climatological results obtained by Riou & CHARTIER. The soil water balance method was highly questionable for estimating evapotranspiration rates in the case of heavy rainfall leading to runoff. In this case, climatological determination of potential evapotranspiration coupled with water balance measurements in the soil could be used to estimate runoff.On présente les résultats d’évaluations de l’évapotranspiration réelle d’une culture pluviale de blé (sur 10 000 m2) et d’un gazon irrigué (sur 4 000 m2) effectuées près de Tunis pendant 2 années consécutives, par l’utilisation simultanée d’un humidimètre à neutrons et de tensiomètres. L’implantation des sites de mesures (un site pour le gazon ; 4 sites pour le blé) a donné lieu à une étude spécifique afin de juger leur représentativité spatiale. Les évapotranspirations observées par période moyenne de 2 semaines sont comparées aux estimations par la formule de Penman modifiée selon Riou & CHARTIER (1 partie de cet article). On montre que si l’on prend soin de sélectionner les sites de mesures pour leur représentativité spatiale, les mesures d’évapotranspiration sont tout à fait comparables aux estimations d’évapotranspiration potentielle tant que la réserve hydrique du sol n’est pas limitante. Ces mesures confirment que durant cette phase, la consommation du blé est supérieure à celle du gazon, comme le suggèrent les résultats présentés par Riou & CHARTIER. Il est également mis en évidence que la méthode du bilan hydrique pose problème pour évaluer l’évapotranspiration lors de pluies intenses ou d’irrigations non uniformes conduisant à du ruissellement. Dans ce cas, l’estimation climatologique de l’évapotranspiration potentielle, couplée aux mesures du bilan hydrique dans le sol, permet d’estimer le ruissellement
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