Creation of a structured molecular genomics report for Germany as a local adaption of HL7's Genomic Reporting Implementation Guide.

OBJECTIVE: The objective was to develop a dataset definition, information model, and FHIR® specification for key data elements contained in a German molecular genomics (MolGen) report to facilitate genomic and phenotype integration in electronic health records. MATERIALS AND METHODS: A dedicated expert group participating in the German Medical Informatics Initiative reviewed information contained in MolGen reports, determined the key elements, and formulated a dataset definition. HL7's Genomics Reporting Implementation Guide (IG) was adopted as a basis for the FHIR® specification which was subjected to a public ballot. In addition, elements in the MolGen dataset were mapped to the fields defined in ISO/TS 20428:2017 standard to evaluate compliance. RESULTS: A core dataset of 76 data elements, clustered into 6 categories was created to represent all key information of German MolGen reports. Based on this, a FHIR specification with 16 profiles, 14 derived from HL7®'s Genomics Reporting IG and 2 additional profiles (of the FamilyMemberHistory and RiskAssessment resources), was developed. Five example resource bundles show how our adaptation of an international standard can be used to model MolGen report data that was requested following oncological or rare disease indications. Furthermore, the map of the MolGen report data elements to the fields defined by the ISO/TC 20428:2017 standard, confirmed the presence of the majority of required fields. CONCLUSIONS: Our report serves as a template for other research initiatives attempting to create a standard format for unstructured genomic report data. Use of standard formats facilitates integration of genomic data into electronic health records for clinical decision support.

Crystal Plane-Related Oxygen-Evolution Activity of Single Hexagonal Co3 O4 Spinel Particles.

The electrocatalytic activity for the oxygen evolution reaction in alkaline electrolyte of hexagonal spinel Co3 O4 nanoparticles derived using scanning electrochemical cell microscopy (SECCM) is correlated with scanning electron microscopy and atomic force microscopy images of the droplet landing sites. A unique way to deconvolute the intrinsic catalytic activity of individual crystal facets of the hexagonal Co3 O4 spinel particle is demonstrated in terms of the turnover frequency (TOF) of surface Co atoms. The top surface exposing 111 crystal planes displayed a thickness-dependent TOF with a TOF of about 100 s-1 at a potential of 1.8 V vs. RHE and a particle thickness of 100 nm. The edge of the particle exposing (110) planes, however, showed an average TOF of 270±68 s-1 at 1.8 V vs. RHE and no correlation with particle thickness. The higher atomic density of Co atoms on the edge surface (2.5 times of the top) renders the overall catalytic activity of the edge planes significantly higher than that of the top planes. The use of a free-diffusing Os complex in the alkaline electrolyte revealed the low electrical conductivity through individual particles, which explains the thickness-dependent TOF of the top planes and could be a reason for the low activity of the top (111) planes.

Revealing the Heterogeneity of Large-Area MoS2 Layers in the Electrocatalytic Hydrogen Evolution Reaction.

The electrocatalytic activity concerning the hydrogen evolution reaction (HER) of micrometer-sized MoS2 layers transferred on a glassy carbon surface was evaluated by scanning electrochemical cell microscopy (SECCM) in a high-throughput approach. Multiple areas on single or multiple MoS2 layers were assessed using a hopping mode nanocapillary positioning with a hopping distance of 500 nm and a nanopipette size of around 55 nm. The locally recorded linear sweep voltammograms revealed a high lateral heterogeneity over the MoS2 sheet regarding their HER activity, with currents between -40 and -60 pA recorded at -0.89 V vs. reversible hygrogen electrode over about 4400 different measured areas on the MoS2 sheet. Stacked MoS2 layers did not show different electrocatalytic activity than the single MoS2 sheet, suggesting that the interlayer resistance influences the electrocatalytic activity less than the resistances induced by possible polymer residues or water layers formed between the transferred MoS2 sheet and the glassy carbon electrode.

Apparent differences between single layer molybdenum disulphide fabricated via chemical vapour deposition and exfoliation.

Innovative applications based on two-dimensional solids require cost-effective fabrication processes resulting in large areas of high quality materials. Chemical vapour deposition is among the most promising methods to fulfill these requirements. However, for 2D materials prepared in this way it is generally assumed that they are of inferior quality in comparison to the exfoliated 2D materials commonly used in basic research. In this work we challenge this assumption and aim to quantify the differences in quality for the prototypical transition metal dichalcogenide MoS2. To this end single layers of MoS2 prepared by different techniques (exfoliation, grown by different chemical vapour deposition methods, transfer techniques and as vertical heterostructure with graphene) are studied by Raman and photoluminescence spectroscopy, complemented by atomic force microscopy. We demonstrate that as-prepared MoS2, directly grown on SiO2, differs from exfoliated MoS2 in terms of higher photoluminescence, lower electron concentration and increased strain. As soon as a water film is intercalated (e.g. by transfer) underneath the grown MoS2, in particular the (opto)electronic properties become practically identical to those of exfoliated MoS2. A comparison of the two most common precursors shows that the growth with MoO3 causes greater strain and/or defect density deviations than growth with ammonium heptamolybdate. As part of a heterostructure directly grown MoS2 interacts much stronger with the substrate and in this case an intercalated water film does not lead to the complete decoupling, which is typical for exfoliation or transfer. Our work shows that the supposedly poorer quality of grown 2D transition metal dichalcogenides is indeed a misconception.

The openEHR Genomics Project.

Current high-throughput sequencing technologies allow us to acquire entire genomes in a very short time and at a relatively sustainable cost, thus resulting in an increasing diffusion of genetic test capabilities, in specialized clinical laboratories and research centers. In contrast, it is still limited the impact of genomic information on clinical decisions, as an effective interpretation is a challenging task. From the technological point of view, genomic data are big in size, have a complex granular nature and strongly depend on the computational steps of the generation and processing workflows. This article introduces our work to create the openEHR Genomic Project and the set of genomic information models we developed to catch such complex structure and to preserve data provenance efficiently in a machine-readable format. The models support clinical actionability of data, by improving their quality, fostering interoperability and laying the basis for re-usability.

Incidence and long-term prognosis of papillary compared to clear cell renal cell carcinoma--a multicentre study.

AIM OF THE STUDY: Papillary renal cell carcinoma (pRCC) is the second most common subtype of RCC after the conventional clear cell type (cRCC). However, its characteristics and prognosis have been less intensively investigated. The aim of our study was to examine the tumour characteristics and long-term prognosis of pRCC compared to clear cell RCC (cRCC). METHODS: In total, 4941 evaluable patients were subjected to either radical nephrectomy or nephron-sparing surgery for pRCC or cRCC at five centres in Germany (University Hospitals of Hannover, Homburg/Saar, Mainz, Ulm and Marburg) between 1990 and 2010. RESULTS: pRCC (n=565) and cRCC (n=4376) patients were comparable with regard to mean age, clinical symptoms, tumour differentiation and regional lymph node metastases. Patients with pRCC had a significantly higher rate of organ confined tumours (pT1-2, N/M0; 74.9% versus 62.9%), less synchronic visceral metastases (9.6% versus 15.2%), and a higher 5-year CSS rate than those with cRCC (85.1% versus 76.9%). Multivariate analysis identified the papillary subtype as a significant positive prognostic factor in localised (HR, 0.45) but as a negative prognostic factor in metastatic tumour stages (HR, 1.37). CONCLUSION: pRCC can apparently be differentiated into two subgroups: an organ-confined/localised subgroup with a significantly better prognosis and an advanced/metastatic subgroup with a worse prognosis compared to cRCC.