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

Work-related ill health in doctors working in Great Britain: incidence rates and trends

BackgroundDoctors have a higher prevalence of mental ill health compared with other professional occupations but incidence rates are poorly studied.AimsTo determine incidence rates and trends of work-related ill health (WRIH) and work-related mental ill health (WRMIH) in doctors compared with other professions in Great Britain.MethodIncidence rates were calculated using an occupational physician reporting scheme from 2005–2010. Multilevel regression was use to study incidence rates from 2001 to 2014.ResultsAnnual incidence rates for WRIH and WRIMH in doctors were 515 and 431 per 100000 people employed, respectively. Higher incidence rates for WRIH and WRMIH were observed for ambulance staff and nurses, respectively. Doctors demonstrated an annual average incidence rates increase for WRIH and WRMIH, especially in women, whereas the other occupations demonstrated a decreasing or static trend. The difference in trends between the occupations was statistically significant.ConclusionsWRIH and WRMIH incidence rate are increasing in doctors, especially in women, warranting further research.</jats:sec