Introducing pinMOS Memory: A Novel, Nonvolatile Organic Memory Device

In recent decades, organic memory devices have been researched intensely and they can, among other application scenarios, play an important role in the vision of an internet of things. Most studies concentrate on storing charges in electronic traps or nanoparticles while memory types where the information is stored in the local charge up of an integrated capacitance and presented by capacitance received far less attention. Here, a new type of programmable organic capacitive memory called p-i-n-metal-oxide-semiconductor (pinMOS) memory is demonstrated with the possibility to store multiple states. Another attractive property is that this simple, diode-based pinMOS memory can be written as well as read electrically and optically. The pinMOS memory device shows excellent repeatability, an endurance of more than 104 write-read-erase-read cycles, and currently already over 24 h retention time. The working mechanism of the pinMOS memory under dynamic and steady-state operations is investigated to identify further optimization steps. The results reveal that the pinMOS memory principle is promising as a reliable capacitive memory device for future applications in electronic and photonic circuits like in neuromorphic computing or visual memory systems. © 2019 The Authors. Published by WILEY-VCH Verlag GmbH & Co. KGaA, Weinhei

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

Some individuals with a particular disease-causing mutation or genotype fail to express most if not all features of the disease in question, a phenomenon that is known as ‘reduced (or incomplete) penetrance’. Reduced penetrance is not uncommon; indeed, there are many known examples of ‘disease-causing mutations’ that fail to cause disease in at least a proportion of the individuals who carry them. Reduced penetrance may therefore explain not only why genetic diseases are occasionally transmitted through unaffected parents, but also why healthy individuals can harbour quite large numbers of potentially disadvantageous variants in their genomes without suffering any obvious ill effects. Reduced penetrance can be a function of the specific mutation(s) involved or of allele dosage. It may also result from differential allelic expression, copy number variation or the modulating influence of additional genetic variants in cis or in trans. The penetrance of some pathogenic genotypes is known to be age- and/or sex-dependent. Variable penetrance may also reflect the action of unlinked modifier genes, epigenetic changes or environmental factors. At least in some cases, complete penetrance appears to require the presence of one or more genetic variants at other loci. In this review, we summarize the evidence for reduced penetrance being a widespread phenomenon in human genetics and explore some of the molecular mechanisms that may help to explain this enigmatic characteristic of human inherited disease

A Chromosomal Inversion Unique to the Northern White-Cheeked Gibbon

The gibbon family belongs to the superfamily Hominoidea and includes 15 species divided into four genera. Each genus possesses a distinct karyotype with chromosome numbers varying from 38 to 52. This diversity is the result of numerous chromosomal changes that have accumulated during the evolution of the gibbon lineage, a quite unique feature in comparison with other hominoids and most of the other primates. Some gibbon species and subspecies rank among the most endangered primates in the world. Breeding programs can be extremely challenging and hybridization plays an important role within the factors responsible for the decline of captive gibbons. With less than 500 individuals left in the wild, the northern white-cheeked gibbon (Nomascus leucogenys leucogenys, NLE) is the most endangered primate in a successful captive breeding program. We present here the analysis of an inversion that we show being specific for the northern white-cheeked gibbon and can be used as one of the criteria to distinguish this subspecies from other gibbon taxa. The availability of the sequence spanning for one of the breakpoints of the inversion allows detecting it by a simple PCR test also on low quality DNA. Our results demonstrate the important role of genomics in providing tools for conservation efforts

Systematic Identification of Balanced Transposition Polymorphisms in Saccharomyces cerevisiae

High-throughput techniques for detecting DNA polymorphisms generally do not identify changes in which the genomic position of a sequence, but not its copy number, varies among individuals. To explore such balanced structural polymorphisms, we used array-based Comparative Genomic Hybridization (aCGH) to conduct a genome-wide screen for single-copy genomic segments that occupy different genomic positions in the standard laboratory strain of Saccharomyces cerevisiae (S90) and a polymorphic wild isolate (Y101) through analysis of six tetrads from a cross of these two strains. Paired-end high-throughput sequencing of Y101 validated four of the predicted rearrangements. The transposed segments contained one to four annotated genes each, yet crosses between S90 and Y101 yielded mostly viable tetrads. The longest segment comprised 13.5 kb near the telomere of chromosome XV in the S288C reference strain and Southern blotting confirmed its predicted location on chromosome IX in Y101. Interestingly, inter-locus crossover events between copies of this segment occurred at a detectable rate. The presence of low-copy repetitive sequences at the junctions of this segment suggests that it may have arisen through ectopic recombination. Our methodology and findings provide a starting point for exploring the origins, phenotypic consequences, and evolutionary fate of this largely unexplored form of genomic polymorphism

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Purpose By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). Methods We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups. Results We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended. Conclusion The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.</p

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

Funder: Children’s Tumor Foundation; doi: https://doi.org/10.13039/http://dx.doi.org/10.13039/100001545PURPOSE: By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). METHODS: We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups. RESULTS: We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended. CONCLUSION: The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS

Potential of Core-Collapse Supernova Neutrino Detection at JUNO

JUNO is an underground neutrino observatory under construction in Jiangmen, China. It uses 20kton liquid scintillator as target, which enables it to detect supernova burst neutrinos of a large statistics for the next galactic core-collapse supernova (CCSN) and also pre-supernova neutrinos from the nearby CCSN progenitors. All flavors of supernova burst neutrinos can be detected by JUNO via several interaction channels, including inverse beta decay, elastic scattering on electron and proton, interactions on C12 nuclei, etc. This retains the possibility for JUNO to reconstruct the energy spectra of supernova burst neutrinos of all flavors. The real time monitoring systems based on FPGA and DAQ are under development in JUNO, which allow prompt alert and trigger-less data acquisition of CCSN events. The alert performances of both monitoring systems have been thoroughly studied using simulations. Moreover, once a CCSN is tagged, the system can give fast characterizations, such as directionality and light curve

Detection of the Diffuse Supernova Neutrino Background with JUNO

As an underground multi-purpose neutrino detector with 20 kton liquid scintillator, Jiangmen Underground Neutrino Observatory (JUNO) is competitive with and complementary to the water-Cherenkov detectors on the search for the diffuse supernova neutrino background (DSNB). Typical supernova models predict 2-4 events per year within the optimal observation window in the JUNO detector. The dominant background is from the neutral-current (NC) interaction of atmospheric neutrinos with 12C nuclei, which surpasses the DSNB by more than one order of magnitude. We evaluated the systematic uncertainty of NC background from the spread of a variety of data-driven models and further developed a method to determine NC background within 15\% with {\it{in}} {\it{situ}} measurements after ten years of running. Besides, the NC-like backgrounds can be effectively suppressed by the intrinsic pulse-shape discrimination (PSD) capabilities of liquid scintillators. In this talk, I will present in detail the improvements on NC background uncertainty evaluation, PSD discriminator development, and finally, the potential of DSNB sensitivity in JUNO

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Purpose By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). Methods We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups. Results We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended. Conclusion The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS

Novel Approach for Organic Devices Based on Doped Crystalline Layers: How to make everything from rubrene

Das Hauptziel dieser Arbeit war ursprünglich die Umsetzung des Konzeptes des Bipolartransistors mit organischen Halbleitern. Obwohl dieses elektronische Bauteil eine Grundfeste klassischer Elektronik darstellt, war es bislang nicht möglich Stromverstärkung mit organischen Halbleitern nachzuweisen. Das Prinzip des Bipolartransistors ist eng verknüpft mit der Diffusionslänge der Minoritätsladungsträger. Aufgrund der amorphen Struktur typischer organischer Materialien, sind Diffusionsprozesse in der Regel stark unterdrückt. Eine mögliche Lösung sind organische Halbleiterkristalle, welche aufgrund ihrer Ordnung signifikant längere Diffusionslängen gewährleisten sollten. Der erste Teil dieser Arbeit untersucht Wachstumsmethoden unterschiedlicher Kristallkonfiguration des Halbleiters Rubrene in Dünnschichtform. Ein besonderer Fokus liegt hierbei auf dem Einfluss von Dotierung auf den Kristallisationsprozess. Drei der Kristallphasen werden auf optimale Reproduzierbarkeit optimiert und umfangreich mit strukturellen Methoden untersucht. Die Strukturanalyse wird erweitert durch Untersuchungen des vertikalen Leitungsverhaltens der unterschiedlichen Kristallphasen in reiner, lochdotierter und elektronendotierter Form. Dünne Schichten aus Rubrene in der triklinen Kristallform zeigen hierbei Rekordwerte für die vertikale Beweglichkeit. Der zweite Teil dieser Arbeit untersucht elektronische Bauelemente basierend auf diesen Kristallen. Zunächst werden organische Schottky, pn und pin Dioden analysiert sowie der Einfluss der einzelnen Schichten auf die elektrischen Eigenschaften der Bauelemente. Als eine mögliche Anwendung dieser Dioden werden Halbwellengleichrichter untersucht, welche im Bereich über 1 GHz operieren können. Diese stellen somit die zur Zeit schnellsten organischen Halbleiterbauelemente dar. Des Weiteren werden organische Feldeffekttransistoren in lateraler und vertikaler Ausführung untersucht, um den Nutzen dieser Kristallschichten für moderne Transistorkonzepte zu verdeutlichen. Schlussendlich werden Konzepte zur Realisierung eines organischen Bipolartransistors untersucht. Darauf basierend wird das erste Bauelement dieser Art vorgestellt, welche funktionierende Stromverstärkung zeigt. Dies stellt den ersten Schritt in der Untersuchung einer neuen Klasse an organischen Bauelementen dar. Des Weiteren bietet es neue Möglichkeiten der Untersuchung fundamentaler Eigenschaften, im Speziellen im Bezug auf Minoritätsladungsträgerdiffusion.The main motivation of this thesis was originally the realization of the Organic Bipolar Junction Transistor (OBJT), an electronic device that has not been shown in literature yet. Its functionality is intimately tied to minority charge carrier diffusion. However, diffusion lengths are usually low in amorphous organic semiconductors. Thus, methods regarding the growth and doping of thin-flms of crystalline rubrene crystals are investigated. The higher degree of order provided by crystals makes longer diffusion lengths possible. The first part of this thesis studies the growth of different crystal polymorphs of rubrene on various substrates and changing conditions, including the infuence of doping on the growth process. Three crystal phases are optimized for reproducible processing and investigated via structural measurements. The analysis of the crystal properties is followed up by a study of vertical conduction properties of pristine, p-doped, and n-doped crystals. All three types of crystals are successfully doped. The analysis reveals record-high vertical charge carrier mobilities for the triclinic polymorph of the thin-film form of rubrene. The second part of this thesis presents electronic devices based on these layers. At first, organic Schottky, pn, and pin diodes are discussed, including the influence of the individual layers on the electric properties. As an exemplary application, half-wave rectifier operating in the GHz-regime are studied, representing the fastest organic electronic device to date. Furthermore, Organic Field-Effect Transistors (OFETs) and Vertical Organic Field-Effect Transistors (VOFETs) based on these crystalline thin-őlms are made, showing promising properties in the field of vertical transistor designs. The last chapter presents investigations of several designs, stacks, and geometries regarding OBJTs. The worlds first functioning OBJT is developed, showing ampliőcation of the input-current. It is the őrst step towards an entirely new class of organic devices, offering not only new technological opportunities but new aspects of physics in regard to minority carrier diffusion as well.Hłowny zaměr tutoho doktorskeho dzěła je realizacija prěnjeho bipolarneho transistora na zakładźe organiskich połwodźakow. Byrnjež je tuta komponenta jedna z najwažnišich a najstaršich w polu klasiskeje elektroniki, njeběše hač dotal móžno priběranje sylnosće na zakładźe milinoweho pruda pokazać. Princip bipolarneho transistora je wusko zwjazany z konceptom diffuzije minoritnych nabitkow. Organiske materialije su zwjetša amorfne, štož na difuziju bazowace procesy potłóči. Problem hodźi so rozrisać hdyž so wužija organiske połwodźace kristale kotřiž jich wjetšeho porjada dla, dlěšu difuziju zmóžnja. Prěni dźěl dźěła wopisa wšelakore konőguracije kristalow organiskeho połwodźa-ka rubren w formje ćenkich worštow. Wosebity fokus leži při tym na dotěrowanju kristalow a wliw dotanta na kristalizaciju. Tři wuzwolene polymorfy so op-timěruja a wobšěrnje strukturelnje přepytuja. Dale so elektriske kajkosće wšěch třoch kristalnych fazow přepytuja na zakładźe intrinsiskich, p-dotěrowanych a n-dotěrowanych kristalow. Trikliniske kristale pokazuja rekordne hódnoty za wertikalnu pohibliwosć. Druhi dźěl wobjednawa elektroniske komponenty na bazy tutych kristalow.Schottky, pn a pin diody na zakładźe rubrena so prezentuja, kaž tež wliw jed-notliwych worštow na elektriske kajkosče. Jako prikład so jednore wusměrjaki pokazaja, kotřriž hodźa we wobłuku ultra-wysokich frekwencow nałožować. Potajkim jedna so wo najspěšniše organiske komponenty po nětcišim stawje wedomosće. Dale so organiske transistory na bazy pólneho efekta přepytuja, kotřiž pokazaja hódnosć tutych worštow za elektroniske komponenty kotřiž wužija lateralny a wertikalny transport zromadnje. Posledni dźěl wobjednawa eksperimenty na polu organiskich bipolarnych transistorow. Wopisa so prěni organiski elektroniski element, kiž pokaza posylnjenje signala na zakładźe miliny. Je to prěni krok přepytowanja noweje klasy organiskeje elektroniki, kiž skiči nowe metody přepytowanja fundamentalnych procesow w tutych materialijach