scholarly journals The ICR1000 UK exome series: a resource of gene variation in an outbred population

F1000Research ◽  
2015 ◽  
Vol 4 ◽  
pp. 883 ◽  
Author(s):  
Elise Ruark ◽  
Márton Münz ◽  
Anthony Renwick ◽  
Matthew Clarke ◽  
Emma Ramsay ◽  
...  
Keyword(s):  
High Sensitivity ◽  
Quality Analysis ◽  
Outbred Population ◽  
High Quality ◽  
Analysis Pipeline ◽  
Gene Variation ◽  
Indel Detection ◽  
The Individual ◽  
Outbred Populations ◽  
Summary Data

To enhance knowledge of gene variation in outbred populations, and to provide a dataset with utility in research and clinical genomics, we performed exome sequencing of 1,000 UK individuals from the general population and applied a high-quality analysis pipeline that includes high sensitivity and specificity for indel detection. Each UK individual has, on average, 21,978 gene variants including 160 rare (0.1%) variants not present in any other individual in the series. These data provide a baseline expectation for gene variation in an outbred population. Summary data of all 295,391 variants we detected are included here and the individual exome sequences are available from the European Genome-phenome Archive as the ICR1000 UK exome series. Furthermore, samples and other phenotype and experimental data for these individuals are obtainable through application to the 1958 Birth Cohort committee.

Application of Imaging Plate to High-Voltage Electron Microscopy

1990 ◽  
Vol 48 (1) ◽  
pp. 168-169
Author(s):  
Seiji Isoda ◽  
Kimitsugu Saitoh ◽  
Sakumi Moriguchi ◽  
Takashi Kobayashi
Keyword(s):  
Electron Microscopy ◽  
High Voltage ◽  
High Sensitivity ◽  
Imaging Plate ◽  
High Quality ◽  
Electron Dose ◽  
High Voltage Electron Microscopy ◽  
Voltage Electron ◽  
High Voltage Electron ◽  
Recording Material

On the observation of structures by high resolution electron microscopy, recording materials with high sensitivity and high quality is awaited, especially for the study of radiation sensitive specimens. Such recording material should be easily combined with the minimum dose system and cryoprotection method. Recently a new recording material, imaging plate, comes to be widely used in X-ray radiography and also in electron microscopy, because of its high sensitivity, high quality and the easiness in handling the images with a computer. The properties of the imaging plate in 100 to 400 kV electron microscopes were already discussed and the effectiveness was revealed.It is demanded to study the applicability of the imaging plate to high voltage electron microscopy. The quality of the imaging plate was investigated using an imaging plate system (JEOL EM-HSR100) equipped in a new Kyoto 1000kV electron microscope. In the system both the imaging plate and films can be introduced together into the camera chamber. Figure 1 shows the effect of accelerating voltage on read-out signal intensities from the imaging plate. The characteristic of commercially available imaging plates is unfortunately optimized for 100 to 200 keV electrons and then for 600 to 1000 keV electrons the signal is reduced. In the electron dose range of 10−13 to 10−10 C/cm2, the signal increases linearly with logarithm of electron dose in all acceralating volatges.

Image Quality Analysis of X-ray Grating Interferometer Using Integrating-bucket Method

2020 ◽  
Vol 64 (2) ◽  
pp. 20503-1-20503-5
Author(s):  
Faiz Wali ◽  
Shenghao Wang ◽  
Ji Li ◽  
Jianheng Huang ◽  
Yaohu Lei ◽  
...  
Keyword(s):  
Image Quality ◽  
Phase Contrast ◽  
Quality Analysis ◽  
Phase Contrast Imaging ◽  
Phase Image ◽  
Contrast Imaging ◽  
High Quality ◽  
Image Quality Analysis ◽  
X Ray ◽  
Grating Interferometer

Abstract Grating-based x-ray phase-contrast imaging has the potential to enhance image quality and provide inner structure details non-destructively. In this work, using grating-based x-ray phase-contrast imaging system and employing integrating-bucket method, the quantitative expressions of signal-to-noise ratios due to photon statistics and mechanical error are analyzed in detail. Photon statistical noise and mechanical error are the main sources affecting the image noise in x-ray grating interferometry. Integrating-bucket method is a new phase extraction method translated to x-ray grating interferometry; hence, its image quality analysis would be of great importance to get high-quality phase image. The authors’ conclusions provide an alternate method to get high-quality refraction signal using grating interferometer, and hence increases applicability of grating interferometry in preclinical and clinical usage.

scholarly journals High-quality net shape geometries from additively manufactured parts using closed-loop controlled ablation with ultrashort laser pulses

2020 ◽  
Vol 9 (1-2) ◽  
pp. 101-110 ◽  
Author(s):  
Daniel Holder ◽  
Artur Leis ◽  
Matthias Buser ◽  
Rudolf Weber ◽  
Thomas Graf
Keyword(s):  
Surface Roughness ◽  
Closed Loop ◽  
High Surface ◽  
Laser Pulses ◽  
Ultrashort Laser Pulses ◽  
Minimum Thickness ◽  
High Quality ◽  
Surface Optical ◽  
The Individual ◽  
Ultrashort Laser

AbstractAdditively manufactured parts typically deviate to some extent from the targeted net shape and exhibit high surface roughness due to the size of the powder grains that determines the minimum thickness of the individual slices and due to partially molten powder grains adhering on the surface. Optical coherence tomography (OCT)-based measurements and closed-loop controlled ablation with ultrashort laser pulses were utilized for the precise positioning of the LPBF-generated aluminum parts and for post-processing by selective laser ablation of the excessive material. As a result, high-quality net shape geometries were achieved with surface roughness, and deviation from the targeted net shape geometry reduced by 67% and 63%, respectively.

scholarly journals Application of Vibrational Spectroscopies in the Qualitative Analysis of Gingival Crevicular Fluid and Periodontal Ligament during Orthodontic Tooth Movement

2021 ◽  
Vol 10 (7) ◽  
pp. 1405
Author(s):  
Fabrizia d’Apuzzo ◽  
Ludovica Nucci ◽  
Ines Delfino ◽  
Marianna Portaccio ◽  
Giuseppe Minervini ◽  
...  
Keyword(s):  
Periodontal Ligament ◽  
Tooth Movement ◽  
Gingival Crevicular Fluid ◽  
Orthodontic Tooth Movement ◽  
High Sensitivity ◽  
Data Analysis Procedure ◽  
Vibrational Spectroscopies ◽  
Composition Structure ◽  
The Individual ◽  
Crevicular Fluid

Optical vibrational techniques show a high potentiality in many biomedical fields for their characteristics of high sensitivity in revealing detailed information on composition, structure, and molecular interaction with reduced analysis time. In the last years, we have used these techniques for investigating gingival crevicular fluid (GCF) and periodontal ligament (PDL) during orthodontic tooth treatment. The analysis with Raman and infrared signals of GCF and PDL samples highlighted that different days of orthodontic force application causes modifications in the molecular secondary structure at specific wavenumbers related to the Amide I, Amide III, CH deformation, and CH3/CH2. In the present review, we report the most relevant results and a brief description of the experimental techniques and data analysis procedure in order to evidence that the vibrational spectroscopies could be a potential useful tool for an immediate monitoring of the individual patient’s response to the orthodontic tooth movement, aiming to more personalized treatment reducing any side effects.

scholarly journals Long runs of homozygosity are associated with Alzheimer’s disease

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sonia Moreno-Grau ◽  
◽  
Maria Victoria Fernández ◽  
Itziar de Rojas ◽  
Pablo Garcia-González ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
European Ancestry ◽  
Runs Of Homozygosity ◽  
Sequencing Data ◽  
Outbred Population ◽  
Whole Exome ◽  
Whole Exome Sequencing Data ◽  
Outbred Populations ◽  
Recessive Effects

AbstractLong runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer’s disease (AD); however, their search has been poorly assessed to date. To investigate homozygosity in AD, here we performed a fine-scale ROH analysis using 10 independent cohorts of European ancestry (11,919 AD cases and 9181 controls.) We detected an increase of homozygosity in AD cases compared to controls [βAVROH (CI 95%) = 0.070 (0.037–0.104); P = 3.91 × 10−5; βFROH (CI95%) = 0.043 (0.009–0.076); P = 0.013]. ROHs increasing the risk of AD (OR > 1) were significantly overrepresented compared to ROHs increasing protection (p < 2.20 × 10−16). A significant ROH association with AD risk was detected upstream the HS3ST1 locus (chr4:11,189,482‒11,305,456), (β (CI 95%) = 1.09 (0.48 ‒ 1.48), p value = 9.03 × 10−4), previously related to AD. Next, to search for recessive candidate variants in ROHs, we constructed a homozygosity map of inbred AD cases extracted from an outbred population and explored ROH regions in whole-exome sequencing data (N = 1449). We detected a candidate marker, rs117458494, mapped in the SPON1 locus, which has been previously associated with amyloid metabolism. Here, we provide a research framework to look for recessive variants in AD using outbred populations. Our results showed that AD cases have enriched homozygosity, suggesting that recessive effects may explain a proportion of AD heritability.

Improvement of the personnel adaptation system in a medical organization

2021 ◽  
pp. 73-78
Author(s):  
Svetlana Vladimirovna Kropotova
Keyword(s):  
Medical Personnel ◽  
Adaptation Process ◽  
Medical Organization ◽  
High Quality ◽  
Methods Of Analysis ◽  
Quality Adaptation ◽  
The Individual

The purpose of the study is to improve the adaptation system for personnel in a multidisciplinary hospital. Results: the problems of organizing the adaptation process were identified, the methods of analysis and assessment of the management of the adaptation process in a medical organization were adapted, the effectiveness of the existing system of adaptation of medical workers in the organization was assessed. Conclusion: the study proved the need for a more complete and high-quality adaptation process; the process is not static, a creative approach is needed, taking into account the characteristics of the organization (team) and the individual abilities of a specialist; to improve the organization, for the effective adaptation of medical personnel, it is necessary to develop the institution of mentoring.

Investigating the use of metadata record graphs to analyze subject headings in the digital public library of America

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Mark Edward Phillips ◽  
Hannah Tarver
Keyword(s):  
Network Analysis ◽  
Public Library ◽  
Quality Analysis ◽  
Common Denominator ◽  
Digital Collections ◽  
Content Type ◽  
Metadata Record ◽  
Metadata Quality ◽  
Subject Headings ◽  
The Individual

Purpose This study furthers metadata quality research by providing complementary network-based metrics and insights to analyze metadata records and identify areas for improvement. Design/methodology/approach Metadata record graphs apply network analysis to metadata field values; this study evaluates the interconnectedness of subjects within each Hub aggregated into the Digital Public Library of America. It also reviews the effects of NACO normalization – simulating revision of values for consistency – and breaking up pre-coordinated subject headings – to simulate applying the Faceted Application of Subject Terminology to Library of Congress Subject Headings. Findings Network statistics complement count- or value-based metrics by providing context related to the number of records a user might actually find starting from one item and moving to others via shared subject values. Additionally, connectivity increases through the normalization of values to correct or adjust for formatting differences or by breaking pre-coordinated subject strings into separate topics. Research limitations/implications This analysis focuses on exact-string matches, which is the lowest-common denominator for searching, although many search engines and digital library indexes may use less stringent matching methods. In terms of practical implications for evaluating or improving subjects in metadata, the normalization components demonstrate where resources may be most effectively allocated for these activities (depending on a collection). Originality/value Although the individual components of this research are not particularly novel, network analysis has not generally been applied to metadata analysis. This research furthers previous studies related to metadata quality analysis of aggregations and digital collections in general.

Synthesis of Cu2O and ZnO Nanowires and their Heterojunction Nanowires by Thermal Evaporation: A Short Review

2014 ◽  
Vol 71 (5) ◽  
Author(s):  
Muhammad Arif Khan ◽  
Samsudi Sakrani ◽  
Syahida Suhaima ◽  
Yussof Wahab ◽  
Rosnita Muhammad
Keyword(s):  
Physical Vapor Deposition ◽  
Thermal Evaporation ◽  
Chemical Properties ◽  
High Sensitivity ◽  
Short Review ◽  
Zno Nanowires ◽  
Oxide Semiconductor ◽  
The Individual ◽  
Photovoltaic Solar Cells ◽  
Physical And Chemical

One dimensional metal oxide semiconductor nanowires of copper (I) oxide (Cu2O), zinc oxide (ZnO), and their heterojunction nanowires possess remarkable physical and chemical properties. ZnO and Cu2O areattractive because the metals are abundant on earth, inexpensive, nontoxic.Moreover, these oxides have useful optical and electrical properties suitable for a wide variety of electrical devices, because their electrical conduction can be predictably controlled by doping. We here restrict the disscussion using a Hot Tube Vacuum Thermal Evaporation. The NWs in these devices will be studied by physical vapor deposition known as vapor-liquid-solid (VLS). Therefore, we explore conventional methods, particularly the VLS of growing ZnO and Cu2O nanowires which are assisted by the catalyst.  In this short review, we report the individual and combined (Cu2O/ZnO) junction nanowires by PVD method.  The main advantages of these composite nanowires are the natural p-n characteristics, the broad light absorption, the high sensitivity to humidity changes, and the fast dynamic response. The combination of all characteristics offered by Cu2O/ZnO nanowires can enable the fabrication of diverse sensing devices, and photovoltaic solar cells.

Area-Arrayed Graphene Nano-Ribbon-Base Strain Sensor

2018 ◽  
Author(s):  
Ryohei Nakagawa ◽  
Zhi Wang ◽  
Ken Suzuki
Keyword(s):  
Chemical Vapor Deposition ◽  
Stress Concentration ◽  
Health Monitoring ◽  
Vapor Deposition ◽  
Strain Sensor ◽  
Chemical Vapor ◽  
High Sensitivity ◽  
Strain Sensors ◽  
Chemical Vapor Deposition Method ◽  
High Quality

Health monitoring devices using a strain sensor, which shows high sensitivity and large deformability, are strongly demanded due to further aging of society with fewer children. Conventional strain sensors, such as metallic strain gauges and semiconductive strain sensors, however, aren’t applicable to health monitoring because of their low sensitivity and deformability. In this study, fundamental design of area-arrayed graphene nano-ribbon (GNR) strain senor was proposed in order to fabricate next-generation strain sensor. The sensor was consisted of two sections, which are stress concentration section and stress detecting section. This structure can take full advantage of GNR’s properties. Moreover, high quality GNR fabrication process, which is one of the important process in the sensor, was developed by applying CVD (Chemical Vapor Deposition) method. Top-down approach was applied to fabricate the GNR. At first, in order to synthesize a high-quality graphene sheet, acetylene-based LPCVD (low pressure chemical vapor deposition) using a closed Cu foil was employed. After that, graphene was transferred silicon substrate and the quality was evaluated. The high quality graphene was transferred on the soft PDMS substrate and metallic electrodes were fabricated by applying MEMS technology. Area-arrayed fine pin structure was fabricated by using hard PDMS as a stress-concentration section. Finally, both sections were integrated to form a highly sensitive and large deformable pressure sensor. The strain sensitivity of the GNR-base sensor was also evaluated.

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