A global reference for human genetic variation

The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies

Hyperoxemia and excess oxygen use in early acute respiratory distress syndrome : Insights from the LUNG SAFE study

Publisher Copyright: © 2020 The Author(s). Copyright: Copyright 2020 Elsevier B.V., All rights reserved.Background: Concerns exist regarding the prevalence and impact of unnecessary oxygen use in patients with acute respiratory distress syndrome (ARDS). We examined this issue in patients with ARDS enrolled in the Large observational study to UNderstand the Global impact of Severe Acute respiratory FailurE (LUNG SAFE) study. Methods: In this secondary analysis of the LUNG SAFE study, we wished to determine the prevalence and the outcomes associated with hyperoxemia on day 1, sustained hyperoxemia, and excessive oxygen use in patients with early ARDS. Patients who fulfilled criteria of ARDS on day 1 and day 2 of acute hypoxemic respiratory failure were categorized based on the presence of hyperoxemia (PaO2 > 100 mmHg) on day 1, sustained (i.e., present on day 1 and day 2) hyperoxemia, or excessive oxygen use (FIO2 ≥ 0.60 during hyperoxemia). Results: Of 2005 patients that met the inclusion criteria, 131 (6.5%) were hypoxemic (PaO2 < 55 mmHg), 607 (30%) had hyperoxemia on day 1, and 250 (12%) had sustained hyperoxemia. Excess FIO2 use occurred in 400 (66%) out of 607 patients with hyperoxemia. Excess FIO2 use decreased from day 1 to day 2 of ARDS, with most hyperoxemic patients on day 2 receiving relatively low FIO2. Multivariate analyses found no independent relationship between day 1 hyperoxemia, sustained hyperoxemia, or excess FIO2 use and adverse clinical outcomes. Mortality was 42% in patients with excess FIO2 use, compared to 39% in a propensity-matched sample of normoxemic (PaO2 55-100 mmHg) patients (P = 0.47). Conclusions: Hyperoxemia and excess oxygen use are both prevalent in early ARDS but are most often non-sustained. No relationship was found between hyperoxemia or excessive oxygen use and patient outcome in this cohort. Trial registration: LUNG-SAFE is registered with ClinicalTrials.gov, NCT02010073publishersversionPeer reviewe

Equity in health care access to: assessing the urban health insurance reform in China

This study evaluates changes in access to health care in response to the pilot experiment of urban health insurance reform in China. The pilot reform began in Zhenjiang and Jiujiang cities in 1994, followed by an expansion to 57 other cities in 1996, and finally to a nationwide campaign in the end of 1998. Specifically, this study examines the pre- and post-reform changes in the likelihood of obtaining various health care services across sub-population groups with different socioeconomic status and health conditions, in an attempt to shed light on the impact of reform on both vertical and horizontal equity measures in health care utilization. Empirical estimates were obtained in an econometric model using data from the annual surveys conducted in Zhenjiang City from 1994 through 1996. The main findings are as follows. Before the insurance reform, the likelihood of obtaining basic care at outpatient setting was much higher for those with higher income, education, and job status at work, indicating a significant measure of horizontal inequity against the lower socioeconomic groups. On the other hand, there was no evidence suggesting vertical inequity against people of chronic disease conditions in access to care at various settings. After the reform, the new insurance plan led to a significant increase in outpatient care utilization by the lower socioeconomic groups, making a great contribution to achieving horizontal equity in access to basic care. The new plan also has maintained the measure of vertical equity in the use of all types of care. Despite reform, people with poor socioeconomic status continue to be disadvantaged in accessing expensive and advanced diagnostic technologies. In conclusion, the reform model has demonstrated promising advantages over pre-reform insurance programs in many aspects, especially in the improvement of equity in access to basic care provided at outpatient settings. It also appears to be more efficient overall in allocating health care resources by substituting outpatient care for more expensive care at emergency or inpatient settings.Equity Reform Urban health care Insurance China Access

Simplification and Desexualization of Gene Expression in Self-Fertile Nematodes

SummaryEvolutionary transitions between sexual modes could be potent forces in genome evolution [1, 2]. Several Caenorhabditis nematode species have evolved self-fertile hermaphrodites from the obligately outcrossing females of their ancestors [3]. We explored the relationship between sexual mode and global gene expression by comparing two selfing species, C. elegans and C. briggsae, with three phylogenetically informative outcrossing relatives, C. remanei, C. brenneri, and C. japonica. Adult transcriptome assemblies from the selfing species are consistently and strikingly smaller than those of the outcrossing species. Against this background of overall simplification, genes conserved in multiple outcrossing species with strong sex-biased expression are even more likely to be missing from the genomes of the selfing species. In addition, the sexual regulation of remaining transcripts has diverged markedly from the ancestral pattern in both selfing lineages, though in distinct ways. Thus, both the complexity and the sexual specialization of transciptomes are rapidly altered in response to the evolution of self-fertility. These changes may result from the combination of relaxed sexual selection and a recently reported genetic mechanism favoring genome shrinkage [4] in partial selfers

Urban health care reform initiative in China: findings from its pilot experiment in Zhengjiang city

This research presents a preliminary assessment of China\u27s urban health care reform experiment. In reforming its existing urban health care programs, the Chinese government initiated a new community-based insurance plan, which was implemented in a pilot experiment in 1994. Data for this study was derived from the first post-experiment survey, which was conducted in Zhengjiang city in 1995. Urban Health Care Reform 505 The survey contains a total of 14,745 individuals, a 3.2% stratified random sample of the total enrollees in Zhengjiang city. A two-part econometric model was employed as the study\u27s analytical framework. Major findings show significant changes in health care cost and utilization patterns in response to the experimental health insurance plan instituted in Zhengjiang city. First, the incidence of using any health care services increased by 12% among the general population. Second, when looking into changes in the composition of difference services, there was a shift from the likelihood of using inpatient care to outpatient care. Third, total health care expenditures decreased by 8% among the general population and 18% among users. And fourth, among respective service-specific users, the utilization rates consistently decreased by 14% for outpatient visits, 11% for inpatient admissions, and 17% for length of stay (LOS) per admission. Based on these findings, the experimental plan appears to be more cost effective than the previous health care programs