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.

Data from four birth cohorts show that preterm births increased markedly. Mean birthweights remained stable over a 33-year period. Increased prevalence of preterm and early term births, associated with high levels of obstetric interventions, has offset the expected improvements due to reduction in risk factors for low birthweight.

Although physical activity and sedentary behavior are moderately heritable, little is known about the mechanisms that influence these traits. Combining data for up to 703,901 individuals from 51 studies in a multi-ancestry meta-analysis of genome-wide association studies yields 99 loci that associate with self-reported moderate-to-vigorous intensity physical activity during leisure time (MVPA), leisure screen time (LST) and/or sedentary behavior at work. Loci associated with LST are enriched for genes whose expression in skeletal muscle is altered by resistance training. A missense variant in ACTN3 makes the alpha-actinin-3 filaments more flexible, resulting in lower maximal force in isolated type IIA muscle fibers, and possibly protection from exercise-induced muscle damage. Finally, Mendelian randomization analyses show that beneficial effects of lower LST and higher MVPA on several risk factors and diseases are mediated or confounded by body mass index (BMI). Our results provide insights into physical activity mechanisms and its role in disease prevention.

Resumo A COVID-19 é uma doença produzida pelo vírus SARS-CoV-2. Esse vírus se espalhou rapidamente pelo mundo, o que levou a Organização Mundial da Saúde a classificar a COVID-19 como uma emergência de saúde internacional e, posteriormente, a declará-la uma pandemia. O número de casos confirmados, no dia 11 de abril de 2020, já passa de 1.700.000, porém esses dados não refletem a real prevalência de COVID-19 na população, visto que, em muitos países, os testes são quase que exclusivamente realizados em pessoas com sintomas, especialmente os mais graves. Para definir políticas de enfrentamento, é essencial dispor de dados sobre a prevalência real de infecção na população. Este estudo tem por objetivos avaliar a proporção de indivíduos já infectados pelo SARS-CoV-2 no Rio Grande do Sul, Brasil, analisar a velocidade de expansão da infecção e estimar o percentual de infectados com e sem sintomas. Serão realizados quatro inquéritos sorológicos repetidos a cada 15 dias, com amostragem probabilística de nove cidades sentinela, em todas as sub-regiões do Estado. As entrevistas e testes ocorrerão no âmbito domiciliar. Serão utilizados testes rápidos para detecção de anticorpos, validados previamente ao início da coleta de dados.

Background Levels of child undernutrition have declined in many middle-income countries, whereas overweight and obesity have increased. We describe time trends in nutritional indicators at age 1 year in the 1982, 1993, 2004 and 2015 Pelotas (Brazil) Birth Cohorts. Methods Each study included all children born in the urban area of the city, with over 4 200 births in each cohort. Children were measured at approximately 12 months of age. Anthropometric indicators were calculated according to World Health Organization Growth Standards. Stunting and wasting were defined as <-2 Z scores for length for age and weight for length, and overweight as >2 Z scores for weight for length. Prevalence was stratified by sex, maternal skin colour and family income. Results The prevalence of stunting declined by 53% (from 8.3% to 3.9%) from 1982 to 2015. Wasting prevalence remained stable at low levels (1.8% in 1982 and 1.7% in 2015), whereas overweight increased by 88% (6.5% to 12.2%). Undernutrition was more common among boys, those born to mothers with brown or black skin colour and in the poorest quintile of families. Socioeconomic inequalities in undernutrition decreased markedly over time. Overweight was markedly more common among the rich in 1982, but fast increase among the poor eliminated socioeconomic differences by 2015, when all groups showed similar prevalence. Conclusions Our results confirm the rapid nutrition transition in Brazil, with marked reduction in levels and inequalities in undernutrition in parallel with a rapid increase in overweight, which became the main nutritional problem for children.