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

Dysplasia in inflammatory bowel disease.

Ulcerative colitis and Crohn's diseases are relapsing longstanding inflammatory bowel diseases, associated with an increased risk of developing colorectal cancer. Continuous surveillance is necessary to detect the preneoplastic lesions in an early stage. New endoscopic techniques have improved the diagnostic accuracy and have resulted in a new and more simplified classification system of the dysplastic lesions in the bowel. Histopathologically these lesions are very heterogenous, consisting of adenomatous, villous and the more recently discovered serrated dysplasia. Its diagnosis may be hampered by the inflamed mucosa, resulting in a high interobserver variability in the categories of indefinite for dysplasia and low-grade dysplasia. Therefore the ECCO guidelines recommend to confirm the diagnosis of dysplasia by a pathologist with expertise in gastrointestinal pathology. In this article we give an overview of colitis-associated dysplasia from the point of view of the endoscopist and the pathologist