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

Updating the approaches to define susceptibility and resistance to anti-tuberculosis agents: implications for diagnosis and treatment

11 páginas, 2 figuras, 1 tablaInappropriately high breakpoints have resulted in systematic false-susceptible AST results to anti-TB drugs. MIC, PK/PD and clinical outcome data should be combined when setting breakpoints to minimise the emergence and spread of antimicrobial resistance.I. Comas was supported by PID2019-104477RB-I00 from the Spanish Science Ministry and by ERC (CoG 101001038)Peer reviewe

Rational application of antibiotics—The influence of anaesthetists’ gender on self‐confidence and knowledge

Background High rates of multiresistant pathogens require detailed knowledge about rational utilization of antibiotics. Many physicians consider themselves uncertain about the interpretation of microbiological diagnostics. We examined whether self-confidence, self-rated knowledge, and objective knowledge regarding the use of antibiotics are associated with gender. Methods For this survey study, in 2017, anaesthesiologists and residents of 16 anaesthetic departments in Germany were asked to complete the Multiinstitutional Reconnaissance of practice with Multiresistant bacteria (MR2) survey. It consists of 55 items evaluating self-confidence regarding the practical use of antibiotics (n = 6), self-rated theoretical knowledge (n = 16), and objective knowledge (n = 5). Their answers to these items in relation to their gender were analysed using Chi-square, Kruskal-Wallis-H-Tests, and unadjusted as well as adjusted logistic regression models. Results Six hundred eighty-four (response rate: 53.9 %) questionnaires were returned and were available for analysis. Female doctors (35.5 %) felt less self-confident (P < 0.001). Self-rated knowledge differed in overall mean (P = 0.014) and the unadjusted (odds ratio [OR]: 0.55; P = 0.013) but not in the adjusted logistic regression (OR: 0.84; P = 0.525). Objective knowledge differed after pooling questions (61.2% correct answers vs 65.4%, P = 0.01) but not with respect to single items and the adjusted logistic regression (OR: 0.83, P = 0.356). Conclusion Less self-confidence and a lower self-rated knowledge were found in female anaesthetists; this is consistent to the gender phenomena observed by other researchers. Nevertheless, between the 2 groups objective knowledge did not differ significantly in any item