Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil

As whole-genome sequencing (WGS) becomes the gold standard tool for studying population genomics and medical applications, data on diverse non-European and admixed individuals are still scarce. Here, we present a high-coverage WGS dataset of 1,171 highly admixed elderly Brazilians from a census-based cohort, providing over 76 million variants, of which ~2 million are absent from large public databases. WGS enables identification of ~2,000 previously undescribed mobile element insertions without previous description, nearly 5 Mb of genomic segments absent from the human genome reference, and over 140 alleles from HLA genes absent from public resources. We reclassify and curate pathogenicity assertions for nearly four hundred variants in genes associated with dominantly-inherited Mendelian disorders and calculate the incidence for selected recessive disorders, demonstrating the clinical usefulness of the present study. Finally, we observe that whole-genome and HLA imputation could be significantly improved compared to available datasets since rare variation represents the largest proportion of input from WGS. These results demonstrate that even smaller sample sizes of underrepresented populations bring relevant data for genomic studies, especially when exploring analyses allowed only by WGS

Use of PtAu/C electrocatalysts toward formate oxidation: electrochemical and fuel cell considerations

Abstract This study reports the use of PtAu/C electrocatalysts with different atomic ratios (90:10, 70:30 and 50:50) supported on Vulcan XC 72 carbon and prepared by the sodium borohydride method toward formate electro-oxidation in alkaline media. The materials were characterized by X-ray diffraction, showing peaks characteristics of Pt and Au face-centered-cubic structures, and also by transmission electron micrographs that show the nanoparticles well dispersed on carbon and a mean particle size between 4 and 5 nm for all electrocatalysts. Electrochemical experiments show PtAu/C as promising catalysts toward formate oxidation, while single cell experiments reveal PtAu/C 90:10 as the best material since it provides a power density higher than Pt/C. The incorporation of Au could increase formate oxidation for more than one reason: (i) a facilitated rupture of C–H bond; (ii) the Au/oxide interface or (iii) by regenerating active sites

Measurement of pseudorapidity distributions of charged particles in proton-proton collisions at sqrt(s) = 8 TeV by the CMS and TOTEM experiments

Pseudorapidity ( $\eta$ ) distributions of charged particles produced in proton–proton collisions at a centre-of-mass energy of 8 $~\text {TeV}$ are measured in the ranges $|\eta | < 2.2$ and $5.3 < |\eta | < 6.4$ covered by the CMS and TOTEM detectors, respectively. The data correspond to an integrated luminosity of $\mathcal {L} = 45 \mu {\mathrm {b}}^{-1}$ . Measurements are presented for three event categories. The most inclusive category is sensitive to 91–96 % of the total inelastic proton–proton cross section. The other two categories are disjoint subsets of the inclusive sample that are either enhanced or depleted in single diffractive dissociation events. The data are compared to models used to describe high-energy hadronic interactions. None of the models considered provide a consistent description of the measured distributions