Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram

The ST-segment and adjacent T-wave (ST-T wave) amplitudes of the electrocardiogram are quantitative characteristics of cardiac repolarization. Repolarization abnormalities have been linked to ventricular arrhythmias and sudden cardiac death. We performed the first genome-wide association meta-analysis of ST-T-wave amplitudes in up to 37 977 individuals identifying 71 robust genotype-phenotype associations clustered within 28 independent loci. Fifty-four genes were prioritized as candidates underlying the phenotypes, including genes with established roles in the cardiac repolarization phase (SCN5A/SCN10A, KCND3, KCNB1, NOS1AP and HEY2) and others with as yet undefined cardiac function. These associations may provide insights in the spatiotemporal contribution of genetic variation influencing cardiac repolarization and provide novel leads for future functional follow-up

Age at first birth in women is genetically associated with increased risk of schizophrenia

Prof. Paunio on PGC:n jäsenPrevious studies have shown an increased risk for mental health problems in children born to both younger and older parents compared to children of average-aged parents. We previously used a novel design to reveal a latent mechanism of genetic association between schizophrenia and age at first birth in women (AFB). Here, we use independent data from the UK Biobank (N = 38,892) to replicate the finding of an association between predicted genetic risk of schizophrenia and AFB in women, and to estimate the genetic correlation between schizophrenia and AFB in women stratified into younger and older groups. We find evidence for an association between predicted genetic risk of schizophrenia and AFB in women (P-value = 1.12E-05), and we show genetic heterogeneity between younger and older AFB groups (P-value = 3.45E-03). The genetic correlation between schizophrenia and AFB in the younger AFB group is -0.16 (SE = 0.04) while that between schizophrenia and AFB in the older AFB group is 0.14 (SE = 0.08). Our results suggest that early, and perhaps also late, age at first birth in women is associated with increased genetic risk for schizophrenia in the UK Biobank sample. These findings contribute new insights into factors contributing to the complex bio-social risk architecture underpinning the association between parental age and offspring mental health.Peer reviewe

Large expert-curated database for benchmarking document similarity detection in biomedical literature search

Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe

Search for excited leptons in pp collisions at √s=7 TeV

This is the pre-print version of the final published paper that is available from the link belowResults are presented of a search for compositeness in electrons and muons using a data sample of pp collisions at a center-of-mass energy √s=7 TeV collected with the CMS detector at the LHC and corresponding to an integrated luminosity of 5.0 fb−15.0 fb−1. Excited leptons (ℓ⁎) are assumed to be produced via contact interactions in conjunction with a standard model lepton and to decay via ℓ⁎→ℓγ, yielding a final state with two energetic leptons and a photon. The number of events observed in data is consistent with that expected from the standard model. The 95% confidence upper limits for the cross section for the production and decay of excited electrons (muons), with masses ranging from 0.6 to 2 TeV, are 1.48 to 1.24 fb (1.31 to 1.11 fb). Excited leptons with masses below 1.9 TeV are excluded for the case where the contact interaction scale equals the excited lepton mass. The limits on the cross sections are the most stringent ones published to date

Geospatial analysis of Indonesia's bankable utility-scale solar PV potential using elements of project finance

Geospatial analysis is useful for mapping the potential of renewables like solar PV. However, recent studies do not address PV’s bankable potential for which project financing can be secured. This paper proposes a framework that incorporates project finance into geospatial analyses to obtain the bankable potential of renewables. We demonstrate our framework for Indonesia, and compare the bankable potential with the socio-economic potential mostly used in literature. Using average inputs On average, the technical potential is 12,200 TWh/year and the socio-economic potential is 152.7 TWh/year if capped by 2030 demand (34% coverage). Considering PV’s financing risks, PV’s bankable potential is 16.0 TWh under current conditions if capped by 2030 demand (3.6% coverage). Both economic potentials are mainly in East Indonesia and absent on Java due to tariffs and land availability. For the bankable potential, the risk perception by banks and investors is another key influence. With a feed-in tariff of 11.5 US¢(2021)/kWh and temporary lift of import restrictions, the bankable potential is 23 TWh if capped by 2030 demand (5.2% coverage) and spreads to Java. For more widespread bankability, additional temporary measures are recommended until the PV’s costs have decreased further and trust by financial institutions has increased.Energie and IndustrieEconomics of Technology and InnovationPhotovoltaic Materials and Device

Maximizing the benefits and minimizing the risks of intervention programs to address micronutrient malnutrition: symposium report

Interventions to address micronutrient deficiencies have large potential to reduce the related disease and economic burden. However, the potential risks of excessive micronutrient intakes are often not well determined. During the Global Summit on Food Fortification, 9–11 September 2015, in Arusha, a symposium was organized on micronutrient risk–benefit assessments. Using case studies on folic acid, iodine and vitamin A, the presenters discussed how to maximize the benefits and minimize the risks of intervention programs to address micronutrient malnutrition. Pre‐implementation assessment of dietary intake, and/or biomarkers of micronutrient exposure, status and morbidity/mortality is critical in identifying the population segments at risk of inadequate and excessive intake. Dietary intake models allow to predict the effect of micronutrient interventions and their combinations, e.g. fortified food and supplements, on the proportion of the population with intakes below adequate and above safe thresholds. Continuous monitoring of micronutrient intake and biomarkers is critical to identify whether the target population is actually reached, whether subgroups receive excessive amounts, and inform program adjustments. However, the relation between regular high intake and adverse health consequences is neither well understood for many micronutrients, nor do biomarkers exist that can detect them. More accurate and reliable biomarkers predictive of micronutrient exposure, status and function are needed to ensure effective and safe intake ranges for vulnerable population groups such as young children and pregnant women. Modelling tools that integrate information on program coverage, dietary intake distribution and biomarkers will further enable program makers to design effective, efficient and safe programs