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

A cluster randomised controlled trial of an intervention to increase the implementation of school physical activity policies and guidelines: study protocol for the physically active children in education (PACE) study

Abstract Background In an attempt to improve children’s physical activity levels governments have introduced policies specifying the minimum time schools are to schedule physical activity each week. Despite this, the majority of schools in many jurisdictions fail to implement these policies. This study will assess the effectiveness of a multi-component implementation strategy on increasing the minutes of planned physical activity scheduled by primary school teachers each week. Methods A cluster randomised controlled trial will be conducted in 62 primary schools in the Hunter New England region of New South Wales, Australia. Schools will be randomly allocated to receive either a multi-component implementation strategy that includes; obtaining executive support, training in-school champions, provision of tools and resources, implementation prompts, reminders and feedback; or usual practice. The study will employ an effectiveness-implementation hybrid design, assessing both policy implementation and individual (student) behavioural outcomes. The primary trial outcome of mean minutes of physical activity scheduled by classroom teachers across the school week will be measured via teacher log-book at baseline and approximately 12 and 18 months post baseline. A nested evaluation of the impact of policy implementation on child physical activity will be undertaken of students in Grades 2 and 3. Analyses will be performed using an intention to treat framework. Linear mixed effects regression models will be used to assess intervention effects on the primary outcome at both follow-up periods. Discussion This study will be the one of the first well powered randomised trials internationally to examine the impact of an implementation strategy for a physical activity policy in primary schools and will address a fundamental research translation gap. Given the dearth of research, the findings will be important in informing future implementation efforts in this setting. Trial registration ANZCTR ACTRN12617001265369 version 1 registered 1st September 2017