Results 91 to 100 of about 22,926 (194)

Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy

Annals of Clinical and Translational Neurology
Objective Approximately 7% of individuals with dystrophinopathy remain undiagnosed at the genetic level using conventional genetic tests like multiplex ligation‐dependent probe amplification (MLPA) and next‐generation sequencing (NGS).
Jiahui Mai, Jing Duan, Xiaoyu Chen, Liqin Liu, Dachao Liang, Tao Fu, Gang Lu, Wai Yee Chan, Xufeng Luo, Feiqiu Wen, Jianxiang Liao, Zhuo Li, Xinguo Lu   +12 more
doaj   +1 more source

The OMII Software – Demonstrations and Comparisons between two different deployments for Client-Server Distributed Systems

, 2007
This paper describes the key elements of the OMII software and the scenarios which OMII software can be deployed to achieve distributed computing in the UK e-Science Community, where two different deployments for Client-Server distributed systems are ...
Chang, Victor
core  

Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders

Genome Medicine
Background Structural variations (SVs) are key genetic contributors to neurodevelopmental disorders (NDDs). Exome sequencing (ES), the current first-line tool for genetic testing of NDDs, falls short in SVs detection.
Bing Xiao, Xiaomei Luo, Yi Liu, Hui Ye, Huili Liu, Yanjie Fan, Yongguo Yu   +6 more
doaj   +1 more source

Plucker forms and the theta map

, 2011
In this paper we introduce the elementary notion of Pl\"ucker form of a pair $(E,S)$, where $E$ is a vector bundle of rank $r$ on a smooth, irreducible, complex projective variety $X$ and $S \subset H^0(E)$ is a subspace of dimension $rm$.
Brivio, Sonia, Verra, Alessandro
core  

Private governance in royalty collection: Effectiveness and limitations in tracing GM soybean in Brazil [PDF]

Ce papier analyse l'émergence d'une innovation institutionnelle en accompagnement de la diffusion du soja génétiquement modifié au Brésil. Il en découle une gouvernance plutôt efficace par la création d'une situation gagnant-gagnant pour les acteurs ...
Carlos Magri Ferreira, Jean-Louis Le Guerroué, Josema Xavier De Madeiros, Juliana Galvarros Bueno Lobo Ribeiro, Michel Fok, Pasquale Lubello, Patricio Mendez Del Villar   +6 more
core  

Analysis of Volatile Flavor Compounds Differences in Organic and Non-organic Gonggan Mandarin Peel at Different Harvest Periods in Deqing County

Shipin gongye ke-ji
To investigate the changes and differences in the volatile organic compounds (VOCs) of Deqing Gonggan Mandarin (GM) peels from organic (OGM) and non-organic (NGM) cultivation at different harvest periods, a comprehensive analysis of their VOCs was ...
Xiaoting ZHU, Gengsheng XIAO, Yuanshan YU, Jing WEN, Lina CHENG, Wenwen LIU, Yujuan XU, Manqin FU   +7 more
doaj   +1 more source

Assessing organizational governance maturity in technical audits: criteria development for the Tanzanian context

Management System Engineering
This study addresses the gap in localised frameworks for assessing organisational governance maturity (OGM) in the technical audit function in Tanzania.
George C. Haule, Juma M. Matindana, George S. Mwaluko   +2 more
doaj   +1 more source

Optical genome mapping enhances cytogenetic analysis in recurrent miscarriage: confirmation of a suspected (1;10) chromosomal translocation

Molecular Cytogenetics
Background Optical genome mapping (OGM) is a next-generation cytogenetic technique that may be beneficial for detecting subtle structural chromosomal alterations that can go unnoticed with conventional studies in couples with recurrent pregnancy loss ...
María del Mar del Águila, Mónica Bernal, José Ramón Vílchez, Bárbara Romero, José Antonio Castilla, Gemma Álvarez, Ana Clavero, Antonio Poyatos, Francisco Ruíz-Cabello   +8 more
doaj   +1 more source

Positive memory enhancement training for individuals with major depressive disorder [PDF]

, 2018
De Raedt, Rudi, Hall, K. A. A., Joormann, Jutta, Timpano, Kiara R   +3 more
core   +2 more sources

Detection of structural DNA variants in medulloblastomas using optical genome mapping. [PDF]

Acta Neuropathol Commun
Kubon N, Bălan M, Koppstein D, Praeger S, Wolter M, Ebert P, Pauck D, Felsberg J, Beez T, Picard D, Remke M, Reifenberger G.   +11 more
europepmc   +1 more source