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Genetic risk factors play important roles in the etiology of oral, dental, and craniofacial diseases. Identifying the relevant risk loci and understanding their molecular biology could highlight new prevention and management avenues. Our current understanding of oral health genomics suggests that dental caries and periodontitis are polygenic diseases, and very large sample sizes and informative phenotypic measures are required to discover signals and adequately map associations across the human genome. In this article, we introduce the second wave of the Gene-Lifestyle Interactions and Dental Endpoints consortium (GLIDE2) and discuss relevant data analytics challenges, opportunities, and applications. In this phase, the consortium comprises a diverse, multiethnic sample of over 700,000 participants from 21 studies contributing clinical data on dental caries experience and periodontitis. We outline the methodological challenges of combining data from heterogeneous populations, as well as the data reduction problem in resolving detailed clinical examination records into tractable phenotypes, and describe a strategy that addresses this. Specifically, we propose a 3-tiered phenotyping approach aimed at leveraging both the large sample size in the consortium and the detailed clinical information available in some studies, wherein binary, severity-encompassing, and “precision,” data-driven clinical traits are employed. As an illustration of the use of data-driven traits across multiple cohorts, we present an application of dental caries experience data harmonization in 8 participating studies (N = 55,143) using previously developed permanent dentition tooth surface–level dental caries pattern traits. We demonstrate that these clinical patterns are transferable across multiple cohorts, have similar relative contributions within each study, and thus are prime targets for genetic interrogation in the expanded and diverse multiethnic sample of GLIDE2. We anticipate that results from GLIDE2 will decisively advance the knowledge base of mechanisms at play in oral, dental, and craniofacial health and disease and further catalyze international collaboration and data and resource sharing in genomics research.
Abstract
Alkali ion beams are among the most intense produced by the ISOLDE facility. These were the first to be studied by the ISOLTRAP mass spectrometer and ever since, new measurements have been regularly reported. Recently the masses of very neutron-rich and short-lived cesium isotopes were determined at ISOLTRAP. The isotope 148Cs was measured directly for the first time by Penning-trap mass spectrometry. Using the new results, the trend of two-neutron separation energies in the cesium isotopic chain is revealed to be smooth and gradually decreasing, similar to the ones of the barium and xenon isotopic chains. Predictions of selected microscopic models are employed for a discussion of the experimental data in the region.
The triple-trap mass spectrometer ISOLTRAP at ISOLDE/CERN has demonstrated the feasibility of mass spectrometry of in-trap-decay product ions. This novel technique gives access to radionuclides, which are not produced directly at ISOL-type radioactive ion beam facilities. As a proof of principle, the in-trap decay of 37K+ has been investigated in a Penning trap filled with helium buffer gas. The half-life of the mother nuclide was confirmed and the recoiling 37Ar+ daughter ion was contained within the trap. The ions of either the mother or the daughter nuclide were transferred to a precision Penning trap, where their mass was determined.