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

National Asthma Education and Prevention Program Working Group Report on the Quality of Asthma Care.

The quality of asthma care is the second topic of the National Asthma Education and Prevention Program Task Force Report on the Cost Effectiveness, Quality of Care, and Financing of Asthma Care. This working group recommended an asthma continuous quality improvement model as an appropriate framework for examining the quality of asthma care. This model can be implemented by various organizations and providers of care in a variety of settings. The framework consists of four steps: (1) define the opportunity for improvement, (2) set the asthma quality improvement goals (outcomes), (3) characterize the process of care, and (4) begin the improvement cycle. Several case studies are presented to illustrate the use of this model in various settings, including managed care facilities, emergency departments, teaching hospitals, physician\u27s offices, schools, workplaces, and communities. In addition, the appendix provides an overview of asthma outcome measures in the framework of patient-centered versus organizationally based perspectives

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism. org, a dynamic platform that is engaging thousands of individuals with autism spectrum disorder (ASD) and connecting them to researchers. By making all data accessible, SPARK seeks to increase our understanding of ASD and accelerate new supports and treatments for ASD