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

Clinicopathological characteristics and health care for Tibetan women with breast cancer: a cross-sectional survey

Abstract Background The healthcare system (HCS) improved in Tibet Autonomous Region (TAR), China. The present study aimed to investigate whether these improvements might alter the clinicopathological characteristics of a Tibetan female with breast cancer (BC) in TAR. Methods This was a single-center cross-sectional study conducted at TAR People’s Hospital. All Tibetan adult women were treated for BC in this hospital between January 1, 1973 and December 31, 2015. The inclusion criteria were as follows: (1) Tibetan adult woman living in Tibet; (2) Histopathology or cytopathology or both confirming primary BC; (3) All the treatments were finished in this hospital. χ2 test and logistic regression were applied, using age group and census register as the two covariates. Results A total of 273 patients with BC were included in the final analysis. Of these, 14 patients were in the free HCS, 183 patients had medical insurance combined with a new rural cooperative HCS, and 76 were in a rural and urban integration HCS. Currently, a rural and urban integration HCS is an improved system. Consequently, an increase in the proportion patients in the T1–3 stage was observed (0.198; 0.046 to 0.852) between the rural and urban integration HCS and free HCS. The proportion of patients in early (I + II) stage cancer (0.110; 0.019–0.633) also increased between these two HCSs. Conclusion This was the first report about Tibetan women with BC in Tibet. Some clinicopathological characteristics at the presentation of Tibetan women with BC may improve during different HCSs. The cancer awareness, early detection, and the overall management in patients with advanced stage BC might improve the prognosis of BC in the rural and urban integration HCS