The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics.

ABSTRACT: A global genome database of all of Earth’s species diversity could be a treasure trove of scientific discoveries. However, regardless of the major advances in genome sequencing technologies, only a tiny fraction of species have genomic information available. To contribute to a more complete planetary genomic database, scientists and institutions across the world have united under the Earth BioGenome Project (EBP), which plans to sequence and assemble high-quality reference genomes for all ∼1.5 million recognized eukaryotic species through a stepwise phased approach. As the initiative transitions into Phase II, where 150,000 species are to be sequenced in just four years, worldwide participation in the project will be fundamental to success. As the European node of the EBP, the European Reference Genome Atlas (ERGA) seeks to implement a new decentralised, accessible, equitable and inclusive model for producing high-quality reference genomes, which will inform EBP as it scales. To embark on this mission, ERGA launched a Pilot Project to establish a network across Europe to develop and test the first infrastructure of its kind for the coordinated and distributed reference genome production on 98 European eukaryotic species from sample providers across 33 European countries. Here we outline the process and challenges faced during the development of a pilot infrastructure for the production of reference genome resources, and explore the effectiveness of this approach in terms of high-quality reference genome production, considering also equity and inclusion. The outcomes and lessons learned during this pilot provide a solid foundation for ERGA while offering key learnings to other transnational and national genomic resource projects.info:eu-repo/semantics/publishedVersio

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear un derstanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5–7 vast areas of the tropics remain understudied.8–11 In the American tropics, Amazonia stands out as the world’s most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepre sented in biodiversity databases.13–15 To worsen this situation, human-induced modifications16,17 may elim inate pieces of the Amazon’s biodiversity puzzle before we can use them to understand how ecological com munities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple or ganism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region’s vulnerability to environmental change. 15%–18% of the most ne glected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lostinfo:eu-repo/semantics/publishedVersio

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost

Comparative Adsorption of CO₂ by Mono‑, Di‑, and Triamino-Organofunctionalized Magnesium Phyllosilicates

Carbon dioxide adsorbents, constituted by organofunctionalized magnesium phyllosilicates, were produced using 3-aminopropyltriethoxysilane (AMPTS), <i>N</i>-[3-(trimethoxysilyl)­propyl]-ethylenediamine (TMSPEDA), <i>N</i>-[3-(trimethoxysilyl)­propyl]-diethylenetriamine (TMSPETA), and tetraethoxyorthosilane (TEOS) as silicon sources with N/Si ratios of 1, 0.75, 0.5, and 0.25, by conventional and microwave heating. Adsorption studies were performed using TGA and temperature programmed desorption (TPD) methods. The results showed that the best temperatures for adsorption were 41, 45, and 90 °C, when magnesium phyllosilicate functionalized with TMSPETA, TMSPEDA, and AMPTS, respectively, were used as adsorbents. Using TPD technique, the maximum efficiency was found to be between 0.285 and 0.899 for 100% AMPTS and 33.33% TMSPETA, obtained by conventional heating. Adsorption efficiency of the materials prepared by conventional method is higher than those obtained using microwave as heating source, except for 100% AMPTS. Desorption kinetics of CO₂, described using Avrami’s model, show that the CO₂ desorption rate constant is in the range from 0.130 to 0.178 min^–1, similar to the values for CO₂ desorption from monoetamolamine-functionalized TiO₂ and Li₄SiO₄ but in a narrower range of values

Insights on the Mechanisms of H₂S Retention at Low Concentration on Impregnated Carbons

Adsorption of H₂S onto porous materials is as an attractive technology for fine biogas cleaning. Three activated carbon samples were studied as adsorbents for biogas desulfurization at low concentration (100 ppm), in order to better understand the underlying mechanisms and provide a basis for the development of new materials. One of the carbons is impregnated with NaOH, another with Fe₂O₃ and the third one is the parent material. Molecular simulation was performed to distinguish the retention mechanism. Textural characterization revealed high surface areas and the existence of ultramicropores with sizes below 4 Å in all samples. The possibility of discriminating the retention regimes emphasized the great influence of the chemisorption in these systems increasing up to 50 times the capacity of retention of H₂S for the sodium-impregnated sample (from 0.3 to 15.64 mg g^–1). Surprisingly, both physisorption and chemisorption could be unequivocally detected for the nonimpregnated sample by evaluating breakthrough curves in different temperatures (up to 423 K). The evaluation of regeneration by heat indicated that the adsorbents can recover about 50% and 20% of their initial capacity for nonimpregnated and impregnated samples, respectively

Publicações em psicologia do desenvolvimento em dois periódicos nacionais na década de 1990 Publications in developmental psychology in two Brazilian journals in the 1990s

No intuito de investigar o crescimento da psicologia do desenvolvimento como campo de pesquisa no Brasil, este estudo examinou 40 artigos da área, publicados em dois periódicos nacionais, entre 1991 e 2000. Os artigos foram analisados quanto a autoria, aspectos metodológicos e uso de referências. Os resultados indicaram a prevalência de artigos empíricos, de estudos com crianças e adolescentes, e do uso de técnicas de análise descritivas. Verificou-se ainda uma concentração da produção no Estado de São Paulo e em universidades públicas. Uma análise comparando as duas metades da década mostrou um aumento significativo na proporção de referências recentes e de referências a artigos e capítulos de livros. Os resultados são discutidos no contexto brasileiro de crescimento da pesquisa em psicologia e da consolidação da área de psicologia do desenvolvimento.<br>The present paper aimed to assess the growth of developmental psychology as a research field in Brazil. Forty papers, published by two leading Brazilian psychology journals between 1991 and 2000, were analyzed. This analysis consisted of an examination of authorship, methodological aspects, and the use of references. The results indicated the prevalence of empirical papers, studies with children and adolescents, and the use of descriptive statistical techniques. Most of the research was conducted in the state of São Paulo and by researchers from federal and state universities. A comparison of the first and second halves of the decade showed a significant increase in the proportion of recent references as well as references to books and chapters. The results are discussed within the Brazilian context of the advances in research in the field of developmental psychology