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

The medical, personal, and social causes of uncertainty in HIV illness

Uncertainty is an important part of the illness experience. Mishel elaborated a theory of uncertainty in acute illness and later expanded the framework to account for uncertainty in chronic illness. Researchers subsequently have investigated the causes and outcomes associated with the uncertainty in illness experience across a variety of medical conditions. The current study applies and extends Mishel\u27s model within the context of HIV illness-related uncertainty. In this qualitative study, focus group methods were used to examine the nature of illness uncertainty experienced by persons living with HIV or AIDS. Findings confirm Mishel\u27s contention that the causes of uncertainty extend beyond those of medical diagnosis, treatment, and recovery to personal and social aspects of daily life. Identified sources of uncertainty may have important mental health and quality of life implications