Rare disorders have many faces: in silico characterization of rare disorder spectrum.

Background: The diagnostic journey for many rare disease patients remains challenging despite use of latest genetic technological advancements. We hypothesize that some patients remain undiagnosed due to more complex diagnostic scenarios that are currently not considered in genome analysis pipelines. To better understand this, we characterized the rare disorder (RD) spectrum using various bioinformatics resources (e.

In-plane InGaAs/Ga(As)Sb nanowire based tunnel junctions grown by selective area molecular beam epitaxy.

In-plane InGaAs/Ga(As)Sb heterojunction tunnel diodes are fabricated by selective area molecular beam epitaxy with two different architectures: either radial InGaAs core/Ga(As)Sb shell nanowires or axial InGaAs/GaSb heterojunctions. In the former case, we unveil the impact of strain relaxation and alloy composition fluctuations at the nanoscale on the tunneling properties of the diodes, whereas in the latter case we demonstrate that template assisted molecular beam epitaxy can be used to achieve a very precise control of tunnel diodes dimensions at the nanoscale with a scalable process. In both cases, negative differential resistances with large peak current densities are achieved.

Passivation of miniature microwave coplanar waveguides using a thin film fluoropolymer electret.

The insertion losses of miniature gold/silicon-on-insulator (SOI) coplanar waveguides (CPW) are rendered low, stable, and light insensitive when covered with a thin film (95 nm) fluoropolymer deposited by a trifluoromethane (CHF) plasma. Microwave characterization (0-50 GHz) of the CPWs indicates that the fluoropolymer stabilizes a hydrogen-passivated silicon surface between the CPW tracks. The hydrophobic nature of the fluoropolymer acts as a humidity barrier, meaning that the underlying intertrack silicon surfaces do not re-oxidize over time-something that is known to increase losses.

Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Background: Genetic variation databases provide invaluable information on the presence and frequency of genetic variants in the 'untargeted' human population, aggregated with the primary goal to facilitate the interpretation of clinically important variants. The presence of somatic variants in such databases can affect variant assessment in undiagnosed rare disease (RD) patients. Previously, the impact of somatic mosaicism was only considered in relation to two Mendelian disease-associated genes.