Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Implications of the COVID-19 Pandemic for Pediatric Primary Care Practice in Europe

The COVID-19 pandemic has taken a heavy toll on the adult population. In the US, out of 1.4 million diagnosed with COVID-19, 154 children have died. In a large cohort study of 135 794 children tested for COVID- 19, the infection rate was low (4%), many positive children remained asymptomatic, and if signs of illness were present, disease symptoms were typically mild. The case fatality rate in this group was 0.2%. In Europe, early studies showed a low fatality rate of 0.69% in children who tested positive for COVID-19, and 4% developed severe illness. Low mortality and morbidity rates due to COVID-19 in European children during the pandemic were confirmed by the statistical office of the European Union. However, despite the available evidence suggesting that the direct impact of COVID-19 on child and adolescent mortality and morbidity is somehow limited, child services suffered important indirect effects, owing mainly to discontinuities seen throughout Europe by many local health systems strained by the pandemic. The disruptions to care-seeking and preventive interventions in the majority of European countries, including checks for healthy children, vaccination plans, and mental disorders programs, were extensive and concerned the European pediatric societies. The aim of this commentary, jointly authored by the European Confederation of Primary Care Pediatricians (ECPCP) and EPAUNEPSA, is to raise awareness of the indirect consequences caused by the pandemic on pediatric primary care practice in Europe and the risks for child health and well-being

Влияние пандемии COVID-19 на оказание первичной педиатрической помощи в Европе

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Educating Asthmatic Children in European Ambulatory Pediatrics: Facts and Insights

International audienc