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https://www.readbyqxmd.com/read/28797091/orion-detecting-regions-of-the-human-non-coding-genome-that-are-intolerant-to-variation-using-population-genetics
#1
Ayal B Gussow, Brett R Copeland, Ryan S Dhindsa, Quanli Wang, Slavé Petrovski, William H Majoros, Andrew S Allen, David B Goldstein
There is broad agreement that genetic mutations occurring outside of the protein-coding regions play a key role in human disease. Despite this consensus, we are not yet capable of discerning which portions of non-coding sequence are important in the context of human disease. Here, we present Orion, an approach that detects regions of the non-coding genome that are depleted of variation, suggesting that the regions are intolerant of mutations and subject to purifying selection in the human lineage. We show that Orion is highly correlated with known intolerant regions as well as regions that harbor putatively pathogenic variation...
2017: PloS One
https://www.readbyqxmd.com/read/28794409/annotating-pathogenic-non-coding-variants-in-genic-regions
#2
Sahar Gelfman, Quanli Wang, K Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matt Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L Heinzen, Michael J Boland, Slavé Petrovski, David B Goldstein
Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively capture pathogenic non-coding variants in genic regions, resulting in overlooking synonymous and intronic variants when searching for disease risk. Here we present the Transcript-inferred Pathogenicity (TraP) score, which uses sequence context alterations to reliably identify non-coding variation that causes disease. High TraP scores single out extremely rare variants with lower minor allele frequencies than missense variants...
August 9, 2017: Nature Communications
https://www.readbyqxmd.com/read/28793858/mtdna-structure-the-women-who-formed-the-brazilian-northeast
#3
Ana Paula Schaan, Lorenna Costa, Diego Santos, Antonio Modesto, Marcos Amador, Camile Lopes, Sílvia Helena Rabenhorst, Raquel Montenegro, Bruno D A Souza, Thayson Lopes, France Keiko Yoshioka, Giovanny Pinto, Vivian Silbiger, Ândrea Ribeiro-Dos-Santos
BACKGROUND: The distribution of mitochondrial DNA (mtDNA) lineages in Brazil is heterogeneous due to different regional colonization dynamics. Northeastern Brazil, although being an important region in terms of human imigration and ethnic admixture, has little information regarding its population mtDNA composition. Here, we determine which mitochondrial lineages contributed to the formation of the Northeastern Brazilian population. Our sample consisted of 767 individuals distributed as follows i) 550 individuals from eight Northeastern states (Piauí, Ceará, Rio Grande do Norte, Paraíba, Pernambuco, Alagoas, Sergipe, and Bahia) which were sequenced for mtDNA hypervariable segments I, II, and III; ii) 217 individuals from Alagoas and Pernambuco (previously published data)...
August 9, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28767384/distributed-differential-evolution-based-on-adaptive-mergence-and-split-for-large-scale-optimization
#4
Yong-Feng Ge, Wei-Jie Yu, Ying Lin, Yue-Jiao Gong, Zhi-Hui Zhan, Wei-Neng Chen, Jun Zhang
Nowadays, large-scale optimization problems are ubiquitous in many research fields. To deal with such problems efficiently, this paper proposes a distributed differential evolution with adaptive mergence and split (DDE-AMS) on subpopulations. The novel mergence and split operators are designed to make full use of limited population resource, which is important for large-scale optimization. They are adaptively performed based on the performance of the subpopulations. During the evolution, once a subpopulation finds a promising region, the current worst performing subpopulation will merge into it...
July 31, 2017: IEEE Transactions on Cybernetics
https://www.readbyqxmd.com/read/28762253/intraocular-robotic-interventional-surgical-system-iriss-mechanical-design-evaluation-and-master-slave-manipulation
#5
Jason T Wilson, Matthew J Gerber, Stephen W Prince, Cheng-Wei Chen, Steven D Schwartz, Jean-Pierre Hubschman, Tsu-Chin Tsao
BACKGROUND: Since the advent of robotic-assisted surgery, the value of using robotic systems to assist in surgical procedures has been repeatedly demonstrated. However, existing technologies are unable to perform complete, multi-step procedures from start to finish. Many intraocular surgical steps continue to be manually performed. METHODS: An intraocular robotic interventional surgical system (IRISS) capable of performing various intraocular surgical procedures was designed, fabricated, and evaluated...
July 31, 2017: International Journal of Medical Robotics + Computer Assisted Surgery: MRCAS
https://www.readbyqxmd.com/read/28758326/a-novel-optimal-coordinated-control-strategy-for-the-updated-robot-system-for-single-port-surgery
#6
Weibang Bai, Qixin Cao, Chuntao Leng, Yang Cao, Masakatsu G Fujie, Tiewen Pan
BACKGROUND: Research into robotic systems for single port surgery (SPS) has become widespread around the world in recent years. A new robot arm system for SPS was developed, but its positioning platform and other hardware components were not efficient. Special features of the developed surgical robot system make good teleoperation with safety and efficiency difficult. METHODS: A robot arm is combined and used as new positioning platform, and the remote center motion is realized by a new method using active motion control...
July 30, 2017: International Journal of Medical Robotics + Computer Assisted Surgery: MRCAS
https://www.readbyqxmd.com/read/28755945/standardization-of-milk-mid-infrared-spectrometers-for-the-transfer-and-use-of-multiple-models
#7
C Grelet, J A Fernández Pierna, P Dardenne, H Soyeurt, A Vanlierde, F Colinet, C Bastin, N Gengler, V Baeten, F Dehareng
An increasing number of models are being developed to provide information from milk Fourier transform mid-infrared (FT-MIR) spectra on fine milk composition, technological properties of milk, or even cows' physiological status. In this context, and to take advantage of these existing models, the purpose of this work was to evaluate whether a spectral standardization method can enable the use of multiple equations within a network of different FT-MIR spectrometers. The piecewise direct standardization method was used, matching "slave" instruments to a common reference, the "master...
July 26, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28726517/robot-assisted-tumor-resection-devices
#8
Yutaka Saito, Kazuki Sumiyama, Philip Wai Yan
In Japan, colorectal endoscopic submucosal dissection (ESD) is being conducted safely and effectively as shown by the increased number of the cases, however, it is still regarded as a complicated and challenging procedure. Therefore, piecemeal endoscopic mucosal resection (p-EMR) is still regarded as an appropriate treatment, rather than ESD for large colorectal tumors, especially in Western countries. Areas covered: There are several factors that are responsible for colorectal ESD difficulty. Firstly, there is no adequate traction or counter-traction in colorectal ESD...
July 20, 2017: Expert Review of Medical Devices
https://www.readbyqxmd.com/read/28717674/exactly-zero-or-once-a-clinically-helpful-guide-to-assessing-genetic-variants-in-mild-epilepsies
#9
Caitlin A Bennett, Slavé Petrovski, Karen L Oliver, Samuel F Berkovic
OBJECTIVE: To assist the interpretation of genomic data for common epilepsies, we asked whether variants implicated in mild epilepsies in autosomal dominant families are present in the general population. METHODS: We studied 12 genes for the milder epilepsies and identified published variants with strong segregation support (de novo germline mutation or ≥4 affected family members). These variants were checked in the Exome Aggregation Consortium (ExAC), a database of genetic variation in over 60,000 individuals...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28708842/evaluating-whole-genome-sequence-data-from-the-genetic-absence-epilepsy-rat-from-strasbourg-and-its-related-non-epileptic-strain
#10
Pablo M Casillas-Espinosa, Kim L Powell, Mingfu Zhu, C Ryan Campbell, Jessica M Maia, Zhong Ren, Nigel C Jones, Terence J O'Brien, Slavé Petrovski
OBJECTIVE: The Genetic Absence Epilepsy Rats from Strasbourg (GAERS) are an inbreed Wistar rat strain widely used as a model of genetic generalised epilepsy with absence seizures. As in humans, the genetic architecture that results in genetic generalized epilepsy in GAERS is poorly understood. Here we present the strain-specific variants found among the epileptic GAERS and their related Non-Epileptic Control (NEC) strain. The GAERS and NEC represent a powerful opportunity to identify neurobiological factors that are associated with the genetic generalised epilepsy phenotype...
2017: PloS One
https://www.readbyqxmd.com/read/28698594/semantic-congruent-audiovisual-integration-during-the-encoding-stage-of-working-memory-an-erp-and-sloreta-study
#11
Yuanjun Xie, Yuanyuan Xu, Chen Bian, Min Li
Although multisensory integration is an inherent component of functional brain organization, multisensory integration during working memory (WM) has attracted little attention. The present study investigated the neural properties underlying the multisensory integration of WM by comparing semantically related bimodal stimulus presentations with unimodal stimulus presentations and analysing the results using the standardized low-resolution brain electromagnetic tomography (sLORETA) source location approach. The results showed that the memory retrieval reaction times during congruent audiovisual conditions were faster than those during unisensory conditions...
July 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28675593/analysis-of-admixture-proportions-in-seven-geographical-regions-of-the-state-of-guerrero-mexico
#12
José Ángel Cahua-Pablo, Miguel Cruz, Pedro Vidal Tello-Almaguer, Luz Carmen Del Alarcón-Romero, Esteban Juan Parra, Salvador Villerías-Salinas, Adán Valladares-Salgado, Vianet Argelia Tello-Flores, Abigail Méndez-Palacios, Claudia Paola Pérez-Macedonio, Eugenia Flores-Alfaro
OBJECTIVE: Mexico's current population structure has been defined by admixture between European, Native American, and to some extent African, groups that started in the sixteenth century. The aim of this research was to analyze the relative contributions of these continental population groups to the seven regions of the state of Guerrero, Mexico. METHODS: A total of 104 ancestry informative markers were analyzed in 480 unrelated women from the seven regions of the state of Guerrero...
July 4, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28669415/global-disparities-in-maternal-morbidity-and-mortality
#13
Maria J Small, Terrence K Allen, Haywood L Brown
The disparity in maternal mortality for African American women remains one of the greatest public health inequities in the United States (US). To better understand approaches toward amelioration of these differences, we examine settings with similar disparities in maternal mortality and "near misses" based on race/ethnicity. This global analysis of disparities in maternal mortality/morbidity will focus on middle- and high-income countries (based on World Bank definitions) with multiethnic populations. Many countries with similar histories of slavery and forced migration demonstrate disparities in health outcomes based on social determinants such as race/ethnicity...
June 29, 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28638406/an-html5-based-pure-website-solution-for-rapidly-viewing-and-processing-large-scale-3d-medical-volume-reconstruction-on-mobile-internet
#14
Liang Qiao, Xin Chen, Ye Zhang, Jingna Zhang, Yi Wu, Ying Li, Xuemei Mo, Wei Chen, Bing Xie, Mingguo Qiu
This study aimed to propose a pure web-based solution to serve users to access large-scale 3D medical volume anywhere with good user experience and complete details. A novel solution of the Master-Slave interaction mode was proposed, which absorbed advantages of remote volume rendering and surface rendering. On server side, we designed a message-responding mechanism to listen to interactive requests from clients (Slave model) and to guide Master volume rendering. On client side, we used HTML5 to normalize user-interactive behaviors on Slave model and enhance the accuracy of behavior request and user-friendly experience...
2017: International Journal of Telemedicine and Applications
https://www.readbyqxmd.com/read/28623099/consensus-statement-on-definitions-and-nomenclature-for-robotic-thoracic-surgery
#15
Robert Cerfolio, Brian E Louie, Alexander S Farivar, Mark Onaitis, Bernard J Park
OBJECTIVES: Robotic thoracic operations are increasing, and new robotic systems are imminent. A definition of what constitutes a robotic thoracic operation and a nomenclature to detail the technique used is needed to accurately compare outcomes. METHODS: The American Association of Thoracic Surgeons Guideline Committee appointed an expert consensus writing committee to construct definitions and nomenclature for robotic thoracic surgery. A PubMed search was generated and after vetting and review of the literature a consensus statement was reached...
May 23, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28613444/interindividual-differences-in-embodied-marginalization-osteological-and-stable-isotope-analyses-of-antebellum-enslaved-individuals
#16
Sophia C Dent
OBJECTIVES: Through pathological and stable isotope analyses, this study probes the stressors, disease ecology, and diets of enslaved individuals from an antebellum plantation cemetery. The study aims to highlight how interindividual isotopic differences reveal that marginalization is not uniformly experienced or embodied. METHODS: The cemetery population consists of 16 individuals; dental and skeletal pathological indicators were collected for all individuals, and light stable isotope ratios (δ(15) N, δ(13) C) were generated from the collagen and hydroxyapatite of nine individuals...
July 8, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28612479/open-water-and-under-ice-seasonal-variations-in-trace-element-content-and-physicochemical-associations-in-fluvial-bed-sediment
#17
Lorne E Doig, Meghan K Carr, Anna G N Meissner, Tim D Jardine, Paul D Jones, Lalita Bharadwaj, Karl-Erich Lindenschmidt
Across the circumpolar world, intensive anthropogenic activities in the southern reaches of many large, northward-flowing rivers can cause sediment contamination in the downstream depositional environment. The influence of ice cover on concentrations of inorganic contaminants in bed sediment (i.e., sediment quality) is unknown in these rivers, where winter is the dominant season. A geomorphic response unit approach was used to select hydraulically diverse sampling sites across a northern test-case system, the Slave River and delta (Northwest Territories, Canada)...
June 13, 2017: Environmental Toxicology and Chemistry
https://www.readbyqxmd.com/read/28603444/the-art-of-living-with-nzt-and-ict-dialectics-of-an-artistic-case-study
#18
EDITORIAL
Hub Zwart
I wholeheartedly sympathize conceptually with Coeckelbergh's paper. The dialectical relationship between vulnerability and technology constitutes the core of Hegel's Master and Slave (the primal scene of contemporary philosophy). Yet, the empirical dimension is underdeveloped and Coeckelbergh's ideas could profit from exposure to case studies. Building on a movie/novel (Limitless) devoted to vulnerability coping and living with ICT, I challenge the claim that modern heroism entails overcoming vulnerability with the help of enhancement and computers...
2017: Foundations of Science
https://www.readbyqxmd.com/read/28600976/master-slave-exponential-synchronization-of-delayed-complex-valued-memristor-based-neural-networks-via-impulsive-control
#19
Xiaofan Li, Jian-An Fang, Huiyuan Li
This paper investigates master-slave exponential synchronization for a class of complex-valued memristor-based neural networks with time-varying delays via discontinuous impulsive control. Firstly, the master and slave complex-valued memristor-based neural networks with time-varying delays are translated to two real-valued memristor-based neural networks. Secondly, an impulsive control law is constructed and utilized to guarantee master-slave exponential synchronization of the neural networks. Thirdly, the master-slave synchronization problems are transformed into the stability problems of the master-slave error system...
September 2017: Neural Networks: the Official Journal of the International Neural Network Society
https://www.readbyqxmd.com/read/28600265/multilateral-telecoordinated-control-of-multiple-robots-with-uncertain-kinematics
#20
Di-Hua Zhai, Yuanqing Xia
This paper addresses the telecoordinated control of multiple robots in the simultaneous presence of asymmetric time-varying delays, nonpassive external forces, and uncertain kinematics/dynamics. To achieve the control objective, a neuroadaptive controller with utilizing prescribed performance control and switching control technique is developed, where the basic idea is to employ the concept of motion synchronization in each pair of master-slave robots and among all slave robots. By using the multiple Lyapunov-Krasovskii functionals method, the state-independent input-to-output practical stability of the closed-loop system is established...
June 6, 2017: IEEE Transactions on Neural Networks and Learning Systems
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