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

Assessing patient safety in the United States : challenges and opportunities

BACKGROUND: In 1999, the US Congress mandated the Agency for Healthcare Research and Quality (AHRQ), Department of Health and Human Services (DHHS), to report annually to the nation about healthcare quality. One chapter in the National Healthcare Quality Report (NHQR) is focused on patient safety. OBJECTIVES: The objectives of this study were to describe the challenges in reporting the national status on patient safety for the first NHQR and discuss emerging opportunities to improve the comprehensiveness and reliability of future reporting. RESEARCH DESIGN: This study is a selective review of definitions, frameworks, data sources, measures, and emerging developments for assessing patient safety in the United States. RESULTS: Available data and measures for patient safety assessment in the nation are inadequate, especially for comparing regions and subpopulations and for trend analysis. However, many opportunities are emerging from the recently increased investments in patient safety research and many ongoing safety improvement efforts in the private sector and at the federal, state, and local government levels. CONCLUSION: There are many challenges in assessing national performance on patient safety today. Ongoing developments on multiple fronts will provide data and measures for more accurate and more comprehensive assessments of patient safety for future NHQRs