PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels.

We report upon PanelDesign, a framework to support the design of diagnostic next generation DNA sequencing panels with epidemiological information. Two publicly available resources, namely Genomics England PanelApp and Orphadata, were combined into a single data set to allow genes in a given NGS panel to be ranked according to the frequency of the associated diseases, thereby highlighting potential core genes as defined by the Eurogenetest/ESHG guidelines for diagnostic next generation DNA sequencing. In addition, PanelDesign can be used to evaluate the contribution of different genes to a given disease following ACMG (American College of Medical Genetics) technical standards.

Conversion Reactions of Solids: From a Surprising Three-Step Mechanism towards Directed Product Formation.

Directed conversion reactions from binary to multinary compounds are discovered from the reaction of Bi2 S3 and Bi2 Se3 with NiCl2 ⋅6 H2 O in polyol media under basic conditions. Control of the synthesis conditions allows the preparation of NiBiSe and superconducting Ni3 Bi2 S2 and Ni3 Bi2 Se2 . The formation of Ni3 Bi2 S2 from Bi2 S3 is found from an unexpected three-step reaction path with Bi and NiBi as intermediates.

Tuneable anisotropy and magnetism in Sn2Co3S2-xSex - probed by (119)Sn Mößbauer spectroscopy and DFT studies.

The half metal (HFM) Sn2Co3S2 shows a fascinating S = 1/2 magnetism. Anisotropic coupling of spins in and between Co Kagomé layers by Sn sites is now studied from the substitution effects of S by Se by systematic and local experimental and first principles data. Trends in crystal structure changes (c/a ratio) as retrieved from XRD data on the solid solution Sn2Co3S2-xSex are complemented by DFT modelling on Sn2Co3SeS and hitherto unknown Sn2Co3Se2.

Taming of Ga droplets on DLC layers--size tuning and local arrangement with nanometer accuracy.

A new method for the fabrication of spherical gallium nanoparticles (Ga-NPs) on diamond-like carbon (DLC) layers with high precision in their desired diameter and positioning is presented. The basic principle is the pre-patterning of a DLC film by focused Ga(+) ion beam irradiation and subsequent annealing. During thermal treatment the evolution of single Ga-NPs with spherical shape on irradiated areas is driven by phase separation and surface segregation of Ga from the supersaturated DLC layer.

Scientific comparison of different online heart rate monitoring systems.

Recent technical development focused on real-time heart rate monitoring instead of postexercise evaluation of recorded data. There are several systems on the market that allow direct and real-time monitoring of several individuals at the same time. The present study compared the systems of Polar, Acentas, Activio, and Suunto in a field test with twelve subjects regarding failure quota, operating distance, and ECG validity.