Results 91 to 100 of about 22,115 (176)

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

Consumers' attitude towards the new element of evolution of the agro-food system: the introduction of Genetically Modified food [PDF]

L’atteggiamento dei consumatori nei confronti di alimenti che contengono OGM o sono ottenuti da OGM e gli alimenti che contengono ingredienti ottenuti da OGM (di seguito designati complessivamente con l’espressione "alimenti geneticamente modificati" o ...
Roselli, Luigi, Seccia, Antonio, Stasi, Antonio   +2 more
core   +1 more source

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

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

Panel Data, Local Cuts, and Orthogeodesic Models [PDF]

Orthogeodesic models admit marginal local cuts and therefore separate inference on subparameters is asymptotically justified. Doubly-flat orthogeodesic models admit local cuts marginally and conditionally.
Bent Jesper Christensen, Nicholas Kiefer
core  

The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling

Molecular Genetics & Genomic Medicine
Background Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome of copy‐number‐variant duplications and defining the mechanisms underlying the formation of ...
Malek Bouassida, Denise Molina‐Gomes, Fairouz Koraichi, Bérénice Hervé, Morgane Lhuilier, Clémence Duvillier, Jessica Le Gall, Marion Gauthier‐Villars, Valérie Serazin, Thibaud Quibel, Rodolphe Dard, François Vialard   +11 more
doaj   +1 more source

Optical Genome Mapping Enhances Structural Variant Detection and Refines Risk Stratification in Chronic Lymphocytic Leukemia. [PDF]

Genes (Basel)
Chakraborty SR, Bickford MA, Smuliac NA, Tonseth KA, Bao J, Murad F, Domínguez Vigil IG, Steinmetz HB, Wainman LM, Shah P, Bengtson EM, PonnamReddy S, Harmon GA, Donnelly LL, Tafe LJ, Karrs JX, Kaur P, Khan WA.   +17 more
europepmc   +1 more source

The Scottish Nephrops Survey Phase II: The Processes that Underlie Quality Loss in the Whole Animal Compared to the Tailed Product [PDF]

, 2008
Albalat, A., Atkinson, R.J.A., Beevers, N.D., Birkbeck, T.H., Coombs, G.M., Crozier, A., Gornik, S., Milligan, R.J., Neil, D.M., Smith, I.P., Theethakaew, C.   +10 more
core