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

Urethral pyogenic granuloma in an adult patient: Presentation and management

Pyogenic granulomas (PGs) are benign vascular tumors that are commonly found on cutaneous and mucosal surfaces. However, mucosal PGs are rarely found in the urogenital tract. Here, we report a case of PG arising from the urethra in a 68 year-old female. The mass was found during evaluation for vaginal prolapse, excised, and classified as PG by histopathology. Urethral PG has been rarely reported in adults and should be considered in the differential for patients presenting with urethral mass