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

Evaluation of a 'drop box' doorstep assessment service to aid remote assessments for COVID-19 in general practice.

From PubMed via Jisc Publications RouterHistory: received 2020-08-04, revised 2021-02-08, accepted 2021-03-17Publication status: ppublishThe COVID-19 is an established threat whose clinical features and epidemiology continues to evolve. In an effort to contain the disease, the National Health Service has adopted a digital first approach in UK general practice resulting in a significant shift away from face-to-face consultations. Consequently, more consultations are being completed without obtaining objective recording of vital signs and face-to-face examination. Some regions have formed hot hubs to facilitate the review of suspected COVID-19 cases and keep their practice site 'clean' including the use of doorstep observations in avoiding the risk of face-to-face examination. To support the safe, effective and efficient remote assessment of suspected and confirmed patients with COVID-19, we established a doorstep assessment service to compliment telephone and video consultations. This allows physiological parameters such as temperature, pulse, blood pressure and oxygen saturation to be obtained to guide further triage. Quality improvement methods were used to integrate and optimise the doorstep assessment and measure the improvements made. The introduction of a doorstep assessment service increased the proportion of assessments for patients with suspected COVID-19 in routine care over weeks. At the same time we were able to dramatically reduce face-to-face assessment over a 6-week period by optimising through a range of measures including the introduction of a digital stethoscope. The majority of patients were managed by their own general practitioner following assessment supporting continuity of care. There were no adverse events during the period of observation; no staff absences related to COVID-19. Quality improvement methods have facilitated the successful integration of doorstep assessments into clinical care. [Abstract copyright: © Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

The (In)Significance of Race and Discrimination among Latino Youth: The Case of Depressive Symptoms

Despite the growing population of Latinos in the United States, there is little research that explores how discrimination affects the mental health of Latino youth along racial lines. In this paper we ask two closely related questions. First, do black Latino youth have higher or lower symptoms of depression than nonblack Latinos? Second, is the relationship between race and depression among Latino youth buffered by discrimination stress? Results from the Transitions Study show that black Latino youth have significantly higher symptoms of depression than nonblack Latinos. The relationship between race and depression depends on daily—but not on lifetime—experiences of discrimination. The combined effect of race and discrimination holds in the face of a wide range of measures of stress, including major lifetime events, recent life events, and chronic stressors. These findings encourage future research that considers the mental health effects of racial variation among Latinos