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Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains uncertain. Using exome sequencing from 77,184 adult individuals (38,618 multi-ancestral individuals from a

Purpose: To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods: We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevale

Source-separating sanitation systems offer the possibility of recycling nutrients present in wastewater as crop fertilisers. Thereby, they can reduce agriculture's impacts on global sources, sinks, and cycles for nitrogen and phosphorous, as well as their associated environmental costs. However, it has been broadly assumed that people would be reluctant to perform the new sanitation behaviours tha

The tetraneutron has attracted the attention of nuclear physicists during the past decades, but there is still no unambiguous confirmation of its existence or non-existence. A new experiment based on 8He(p, 2p)7H{t+4n} reaction, with direct detection of the four neutrons, has been carried out at RIBF, which can hopefully help to draw a definite conclusion on the tetraneutron system. © 2021, The Au

This Report summarizes the proceedings of the 2017 Les Houches workshop on Physics at TeV Colliders. Session 1 dealt with (I) new developments relevant for high precision Standard Model calculations, (II) theoretical uncertainties and dataset dependence of parton distribution functions, (III) new developments in jet substructure techniques, (IV) issues in the theoretical description of the product

This chapter revisits the ideas of radical empiricism and sensuous scholarship, embedded in current music education research. Focusing on the development of methodological implications of cultural responsiveness and arts-based research methods, the chapter argues for epistemic openness. The discussion is located within the author’s own experiences of course development for Swedish music teacher st

This chapter rests on participant observation and interviews from Malungs folkhögskola, the distance education “Folkmusik fiol”, led by the doyen of Swedish folk music pedagogy, Jonny Soling. With his life-long experience of fiddle education for grown-ups, Soling has unique knowledge of holistic fiddle didactics. At the age of 73, he still attracts course participants from all ages and all parts o

Purpose: Due to an increase in survival, a growing population of childhood cancer survivors (CCS) is present. However, female CCS are at risk of developing premature ovarian insufficiency (POI) after cancer treatment. POI involves a decreased chance of conceiving and the increased infertility state has a large impact on affected individuals’ health and mental life. The objective of this study was

A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly available in silico DNase I and ChIP-seq data with in vitro reporter gene and CRISPR assays to annotat

Ribonucleotide reductase (RNR) is an essential enzyme with a complex mechanism of allosteric regulation found in nearly all living organisms. Class I RNRs are composed of two proteins, a large α-subunit (R1) and a smaller β-subunit (R2) that exist as homodimers, that combine to form an active heterotetramer. Aquifex aeolicus is a hyperthermophilic bacterium with an unusual RNR encoding a 346-resid

Background: Patients with bladder pain syndrome experience debilitating pain and extreme frequency of urination. Numerous therapeutic approaches have been tested, but as the molecular basis of disease has remained unclear, specific therapies are not available. Objective: Recently, a systematic gene deletion strategy identified interleukin-1 (IL-1) hyperactivation as a cause of severe cystitis in a

Longer follow-up and new trial data from phase 3 randomised controlled trials investigating immune checkpoint blockade (PD-1 or its ligand PD-L1) in advanced clear-cell renal cell carcinoma (RCC) have recently become available. The CheckMate 9ER trial demonstrated an improved progression-free survival (PFS) and overall survival (OS) benefit for the combination of cabozantinib plus nivolumab. A Key

The recent randomized controlled phase III CLEAR trial results are the last to complement immune checkpoint inhibitor (ICI)-based doublet combination therapies for treatment-naïve metastatic clear-cell renal cell carcinoma. The CLEAR trial demonstrated an improved progression-free survival (PFS), overall survival (OS), and an objective response rate (ORR) benefit for the combination of lenvatinib

Miniature hyperspectral and thermal cameras onboard lightweight unmanned aerial vehicles (UAV) bring new opportunities for monitoring land surface variables at unprecedented fine spatial resolution with acceptable accuracy. This research applies hyperspectral and thermal imagery from a drone to quantify upland rice productivity and water use efficiency (WUE) after biochar application in Costa Rica

Properties of the Grain-128AEAD key re-introduction, as part of the cipher initialization, are analyzed and discussed. We consider and analyze several possible alternatives for key re-introduction and identify weaknesses, or potential weaknesses, in them. Our results show that it seems favorable to separate the state initialization, the key re-introduction, and the A/R register initialization into