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

Clustering of risk factors for non-communicable disease and healthcare expenditure in employees with private health insurance presenting for health risk appraisal: a cross-sectional study

Background: The global increase in the prevalence of NCD's is accompanied by an increase in risk factors for these diseases such as insufficient physical activity and poor nutritional habits. The main aims of this research study were to determine the extent to which insufficient physical activity (PA) clustered with other risk factors for non-communicable disease (NCD) in employed persons undergoing health risk assessment, and whether these risk factors were associated with higher healthcare costs. Methods. Employees from 68 companies voluntarily participated in worksite wellness days, that included an assessment of self-reported health behaviors and clinical measures, such as: blood pressure (BP), Body Mass Index (BMI), as well as total cholesterol concentrations from capillary blood samples. A risk-related age, 'Vitality Risk Age' was calculated for each participant using an algorithm that incorporated multiplicative pooled relative risks for all cause mortality associated with smoking, PA, fruit and vegetable intake, BMI, BP and cholesterol concentration. Healthcare cost data were obtained for employees (n = 2 789). Results: Participants were 36 ± 10 years old and the most prevalent risk factors were insufficient PA (67%) and BMI ≥ 25 (62%). Employees who were insufficiently active also had a greater number of other NCD risk factors, compared to those meeting PA recommendations (chi§ssup§2§esup§ = 43.55; p < 0.0001). Moreover, employees meeting PA guidelines had significantly fewer visits to their family doctor (GP) (2.5 versus 3.11; p < 0.001) than those who were insufficiently PA, which was associated with an average cost saving of ZAR100 per year (p < 0.01). Furthermore, for every additional year that the 'Vitality Risk Age' was greater than chronological age, there was a 3% increased likelihood of at least one additional visit to the doctor (OR = 1.03; 95% CI = 1.01 - 1.05). Conclusion: Physical inactivity was associated with clustering of risk factors for NCD in SA employees. Employees with lower BMI, better self-reported health status and readiness to change were more likely to meet the PA guidelines. These employees might therefore benefit from physical activity intervention programs that could result in improved risk profile and reduced healthcare expenditure