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

The sub-basin springs of Poxim river, state of Sergipe: the degradation to restoration

Estudos ambientais em bacias hidrográficas são fundamentais para o entendimento do uso dos recursos naturais e dos problemas relacionados à ocupação do espaço. Em Sergipe, há necessidade de se obter informações para fins de planejamento e gestão futura de suas bacias hidrográficas, uma vez que gradualmente observa-se uma redução do volume produzido nos cursos d'água e da qualidade de suas águas, que são imprescindíveis para o abastecimento humano, a utilização na agricultura e na indústria. Devido ao acelerado processo de supressão da vegetação na sub-bacia hidrográfica do rio Poxim, formada pelos rios Poxim-mirim, Poxim-açu, e Pitanga e seus pequenos tributários, foi realizado um diagnóstico para se verificar o estado de conservação das suas principais nascentes, a situação quanto ao fluxo de água, as formas de uso e ocupação do solo no entorno destas e os tipos fisionômicos de vegetação remanescentes. As informações obtidas serão úteis para a realização de projetos de restauração ambiental, a promoção de melhorias no ambiente e nas comunidades rurais e resgate da diversidade da flora e fauna nestas áreas. Observou-se que as 20 principais nascentes dos rios e tributários que compõem a sub-bacia hidrográfica do rio Poxim, apresentam alterações decorrentes da acelerada antropização (90%), a maioria delas (65%) com elevada degradação (sem raio mínimo de 50m de vegetação) e ocupadas por agricultura (50%) e pastagens (35%). Somente duas nascentes encontram-se preservadas. Quanto à composição florística, as espécies identificadas (43) podem ser utilizadas em projetos futuros para restauração das nascentes e dos cursos d'água nesta sub-bacia hidrográfica. _________________________________________________________________________________________ ABSTRACT: Environmental studies on river basins are fundamental to understanding the natural resources use and the problems related to the space occupation. In Sergipe, it is necessary to obtain information for planning purposes and future management of their watersheds, once the watercourses volume and its quality are reducing gradually, which are essential for human supply and use in agriculture and industry. Due to the accelerated removal of vegetation in the river Poxim sub-basin, formed by the Poxim-Mirim, Poxim-Açu, Pitanga rivers, and its small tributaries, a diagnosis was carried out to verify the conservation status of their main sources, the situation on the water flow, the different uses, and land use around these sources and the remaining vegetation physiognomic types. The information is useful for carrying out environmental restoration projects, promoting improvements in the environment and in the rural communities and for the flora and fauna diversity rescue in these areas. It was observed that the 20 rivers sources top and tributaries that compose the river Poxim sub-basin showed changes from accelerated human anthropization (90%), most (65%) with high degradation (no vegetation in the minimum radius of 50 m), being occupied by agriculture (50%) and pastures (35%). Only two sources were preserved. The floristic composition, the identified species (43) can be used in future projects for sources and watercourses restoration in this sub-basin

HE-LHC: The High-Energy Large Hadron Collider – Future Circular Collider Conceptual Design Report Volume 4

In response to the 2013 Update of the European Strategy for Particle Physics (EPPSU), the Future Circular Collider (FCC) study was launched as a world-wide international collaboration hosted by CERN. The FCC study covered an energy-frontier hadron collider (FCC-hh), a highest-luminosity high-energy lepton collider (FCC-ee), the corresponding 100 km tunnel infrastructure, as well as the physics opportunities of these two colliders, and a high-energy LHC, based on FCC-hh technology. This document constitutes the third volume of the FCC Conceptual Design Report, devoted to the hadron collider FCC-hh. It summarizes the FCC-hh physics discovery opportunities, presents the FCC-hh accelerator design, performance reach, and staged operation plan, discusses the underlying technologies, the civil engineering and technical infrastructure, and also sketches a possible implementation. Combining ingredients from the Large Hadron Collider (LHC), the high-luminosity LHC upgrade and adding novel technologies and approaches, the FCC-hh design aims at significantly extending the energy frontier to 100 TeV. Its unprecedented centre-of-mass collision energy will make the FCC-hh a unique instrument to explore physics beyond the Standard Model, offering great direct sensitivity to new physics and discoveries