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

Beyond mean values: Quantifying intraindividual variability in pre-sleep arousal and sleep in younger and older community-dwelling adults

Intraindividual variability is an often understudied aspect of health outcomes research that may provide additional, complementary information to average values. The current paper aims to further our understanding of intraindividual variability in health research by presenting the results of a daily diary study of sleep and pre-sleep arousal. Pre-sleep arousal is often implicated in poor sleep outcomes, although the arousal–sleep association is not uniform across age groups. The examination of intraindividual variability in different age groups may provide a more complete understanding of these constructs, which, in turn, can inform future research. The overall objectives of the current study are to quantify the amount of intraindividual variability in pre-sleep arousal and sleep and to examine age differences in this variability. A sample of older (n=50) and younger (n=50) adults recruited from North Central Florida and online completed 14-consecutive-day diaries assessing pre-sleep arousal and sleep outcomes. Significant age differences were found for sleep and pre-sleep arousal; older adults displayed poorer, more variable sleep for the majority of sleep outcomes, and higher levels of pre-sleep arousal than younger adults. The high amount of intraindividual variability has implications for the assessment of pre-sleep arousal and sleep across age groups