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Identification of genomic variability in population plays an important role in the clinical diagnostics of human genetic diseases. Thanks to rapid technological development in the field of massive parallel sequencing technologies, also known as next-generation sequencing (NGS), complex genomic analyses are now easier and cheaper than ever before, which consequently leads to more effective utilization of these techniques in clinical practice. However, interpretation of data from NGS is still challenging due to several issues caused by natural variability of DNA sequences in human populations. Therefore, development and realization of projects focused on description of genetic variability of local population (often called "national or digital genome") with a NGS technique is one of the best approaches to address this problem. The next step of the process is to share such data via publicly available databases. Such databases are important for the interpretation of variants with unknown significance or (likely) pathogenic variants in rare diseases or cancer or generally for identification of pathological variants in a patient's genome. In this paper, we have compiled an overview of published results of local genome sequencing projects from United Kingdom and Europe together with future plans and perspectives for newly announced ones. [ABSTRACT FROM AUTHOR]

Children and adolescents are at high risk of traumatic brain injuries (TBI). To identify those most at risk across Europe, a comprehensive epidemiological study on the burden of TBI is needed. Our aim was to estimate the burden of TBI in the pediatric and adolescent population of Europe by calculating rates of hospital-based incidence, death and years of life lost (YLL) due to TBI in 33 countries of Europe in 2014 (most recent available data). We conducted a cross-sectional observational, population-based study. All cases with TBI in the age range 0 to 19, registered in the causes of death databases or hospital discharge databases of 33 European countries were included. Crude and age-standardized rates of hospital discharges, deaths and YLLs due to TBI; and pooled estimates for all countries combined were calculated. TBI caused 2303 deaths (71% in boys), 154,282 YLLs (68% in boys) and 441,368 hospital discharges (61% in boys) in the population of 0–19 year-olds. We estimated pooled age-standardized rates of death (2.8, 95% CI: 2.4–3.3), YLLs (184.4, 95% CI: 151.6–217.2) and hospital discharges (344.6, 95% CI: 250.3–438.9) for the analyzed countries in 2014. The population of 15–19 year-olds had the highest rates of deaths and YLLs, and the population of 0–4 year-olds had the highest rate of hospital discharges. Detailed estimates of hospital discharge, death and YLL rates based on high-quality, standardized data may be used to develop health policies, aid decision-making and plan prevention. [ABSTRACT FROM AUTHOR]

In Europe, Toxoplasma gondii lineage II is dominant, and ToxoDB#1 the most frequently occurring genotype. The abundance of lineage III genotypes varies geographically and lineage I are rare, yet present in several regions of the continent. Data on the T. gondii population structure in southeastern Europe (SEE) are scarce, yet necessary to appreciate the diversity of the species in Europe. To help fill this gap, we genotyped 67 strains from nine species of intermediate hosts in Serbia by MnPCR-RFLP, determined the population structure, and identified the genotypes using ToxoDB. A neighbor-joining tree was also constructed from the isolates genotyped on nine loci. While 42% of the total genotype population consisted of ToxoDB#1 and ToxoDB#2, variant genotypes of both lineages comprised 46% of the population in wildlife and 28% in domestic animals and humans. One genotype of Africa 4 lineage was detected in a human sample. Interestingly, the findings include one lineage III variant and one II/III recombinant isolate with intercontinental distribution, which appear to be moderately related to South American genotypes. Based on these findings, SEE is a region of underappreciated T. gondii genetic diversity and possible strain exchange between Europe and Africa. [ABSTRACT FROM AUTHOR]