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Think big — think omics

Ron A. Wevers, Nenad Blau
2018 Journal of Inherited Metabolic Disease  
Traditionally the laboratory diagnosis of inborn errors of metabolism largely relies on targeted hypothesis-driven measurements of metabolites in body fluids.  ...  Central IEM knowledge repositories like IEMbase map to both HMDB and human phenotype onthology (HPO) and offer a diagnostic aid for many genetic metabolic centres and clinical communities seeking support  ...  Central IEM knowledge repositories like IEMbase map to both HMDB and human phenotype onthology (HPO) and offer a diagnostic aid for many genetic metabolic centres and clinical communities seeking support  ... 
doi:10.1007/s10545-018-0165-4 pmid:29541953 fatcat:6oi4qbi3ojdvlcjx4uuupszk24

BioExcel Deliverable D1.4 - Long-term hardware software assessment for pilot applications and general community

Mark Abraham, Paul Bauer, Christian Blau, Erik Lindahl, Gilbert Netzer, Erwin Laure, Mikael Trellet, Adrien Melquiond, Emiliano Ippoliti, Vytautas Gapsys
2019 Zenodo  
Future software and hardware development will have a significant impact on all areas of scientific computing including the Life Sciences.  ...  Upcoming extreme-scale compute platforms will offer great opportunities for tackling important, large- scale scientific questions.  ...  More and more important scientific questions are data driven and rely on the analysis of large amounts of raw data.  ... 
doi:10.5281/zenodo.3563747 fatcat:k3ywsgsih5d6dkqnubzufabknu

Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders

A Homs, M Codina-Solà, B Rodríguez-Santiago, C M Villanueva, D Monk, I Cuscó, L A Pérez-Jurado
2016 Translational Psychiatry  
Although highly penetrant mutations in multiple genes have been identified, they account for the etiology of o 1/3 of cases.  ...  Resequencing of the top candidate genes also revealed a significant load of deleterious mutations affecting ERMN in ASD compared with controls.  ...  AH had a predoctoral fellowship of Ministry of Education, Culture and Sport (FPU AP2009-4795).  ... 
doi:10.1038/tp.2016.120 pmid:27404287 pmcid:PMC5545709 fatcat:eh5ugngzhvey3gvafkuuuz6jl4

204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24–26 January 2014, Naarden, The Netherlands

Alessandra Ferlini, Kevin M. Flanigan, Hanns Lochmuller, Francesco Muntoni, Peter A.C. 't Hoen, Elizabeth McNally
2015 Neuromuscular Disorders  
Acknowledgments This workshop was made possible by the financial support of the European Neuromuscular Centre (ENMC) and its main sponsors: Association Française contre les Myopathies (France), Deutsche  ...  There is a specific Forum to discuss and dialogue with applicants before submission of scientific data (preparatory activities).  ...  The program aims to create a large repository of antibodies and has generated up to date 21984 ab targeting 16621 gene products (  ... 
doi:10.1016/j.nmd.2014.09.004 pmid:25529833 pmcid:PMC4534085 fatcat:rlz6mczoprfpbavdjfbnkpjrge

Unravelling the proteomic profile of rice meiocytes during early meiosis

Melania Collado-Romero, Enriqueta Alós, Pilar Prieto
2014 Frontiers in Plant Science  
With the objective of getting deeper into the knowledge of the proteins involved in early meiosis, when chromosomes associate correctly in pairs and recombine, the proteome of isolated rice meiocytes has  ...  been characterized by nLC-MS/MS at every stage of early meiosis (prophase I).  ...  Authors thank Carlos García and Anabel Marina from the "CBMSO protein chemistry facility," a member of ProteoRed network, for their assistance in nLC-MS/MS analysis. We also thank Dr. M.  ... 
doi:10.3389/fpls.2014.00356 pmid:25104955 pmcid:PMC4109522 fatcat:ijezuztno5bwlnw3tlosgffvbe

D6.22- 4th periodic report on PhDs

Roberto La Ragione, Aurore Poirier, Jennifer Cantlay, Dan Horton, Wim Van Der Poel
2022 Zenodo  
12-month progress of the One Health EJP PhD students between January and December 2021  ...  and is leading scientific projects on zoonotic pathogens (Salmonella, Listeria, and Campylobacter) in poultry productions.  ...  Rules were implemented to treat the cases of equality of representation of two or more STs  ... 
doi:10.5281/zenodo.6532297 fatcat:36746vh3jfguncynkonodlevky

Proteomics boosts translational and clinical microbiology

F. Del Chierico, A. Petrucca, P. Vernocchi, G. Bracaglia, E. Fiscarelli, P. Bernaschi, M. Muraca, A. Urbani, L. Putignani
2014 Journal of Proteomics  
The application of proteomics to translational and clinical microbiology is one of the most advanced frontiers in the management and control of infectious diseases and in the understanding of complex microbial  ...  the vision of infectious diseases in biomedicine and approaching new viewpoints in both diagnostic and clinical management of the patient.  ...  We like to thank Andreina Santoro for the careful revision of the English language.  ... 
doi:10.1016/j.jprot.2013.10.013 pmid:24145144 fatcat:goefo4klajhstgdf34ibdoueam

How Sustainable Enterprises Can Drive The Sustainable Development

Patrizia Gazzola, Eka Sepashvili, Roberta Pezzetti
2018 European Scientific Journal  
acknowledge Román Salgado Maximiliano, Ramirez Miranda María Alejandra, Jaimes Pérez Josué Iván, Martínez Carrillo Eligio, and González Torres Arturo for their advice, guidance, and direction in the course of  ...  In several studies, (Piattini and Garzás, 2010), concluded that: "The model-driven software development (MDSD) was founded with the objective of integrating models and code as participants in software  ...  However, since men are naturally driven by their self-interests there is no guarantee that both parties will keep up their end of the deal.  ... 
doi:10.19044/esj.2018.c3p3 fatcat:bfdk5wm6wvbg5ann2tzuymivdq

RNApredator: A web-based tool to predict small RNA targets

Florian Eggenhofer
2011 unpublished
Darüberhinaus, kann die Anreicherung von Gene Onthology terms und Veränderung von struktureller Zugänglichkeit bei Gruppen von ausgewählten mRNAs automatisch berechnet werden.  ...  The majority of sRNAs functions as post-transcriptional regulators by means of specific hybridization with the 5-untranslated region of mRNA transcripts, thereby modifying the target transcript its ability  ...  Early on it has been recognized that essential parts of the cellular machinery are driven by RNA-based components, for example the ribosomes.  ... 
doi:10.25365/thesis.17185 fatcat:wirom4qxkjbi3l4tyg3uss4gca

Revealing interspecies transmission barriers of avian influenza A viruses [article]

Mahmoud M. Naguib, Per Eriksson, Elinor Jax, Jonas Nilsson, Carina Sihlbom, Cecilia Lindskog, Caroline Brojer, Britt-Marie Olsson, Michelle Wille, Jonas Waldenstroem, Goran Larson, Robert H. S. Kraus (+4 others)
2020 bioRxiv   pre-print
Through assessment of infection dynamics of mallard origin IAV in two different avian hosts, coupled with studies of receptor expression and host response we aimed to reveal the host-pathogen interactions  ...  Further, in contrary to the prevailing dogma we demonstrate that birds can produce a wide range of different sialylated structures also found in mammals, e.g. extended N- and O-linked Neu5Ac alpha2,6 terminated  ...  Although this might have been driven by method of inoculation, it is in sharp 307 contrast to LPAIV infection in mallards, where the infection is well-documented in the 308 surface epithelium of the gastrointestinal  ... 
doi:10.1101/2020.11.17.386755 fatcat:wf3hiiymrveg5d27jzdoytokfu


chander Mr. A. Harish
2020 International Journal of Pharma and Bio Sciences  
Also, it focuses on the integration of machine learning algorithms to mankind.  ...  the maximum utilization of scientific knowledge to potentiate diagnosis and therapy in health care.  ...  Associate Professor, Department of Electronics, Erode Arts and Science College, (Autonomous), Erode-9, for her continuous support and guidance.  ... 
doi:10.22376/ijpbs/ijlpr/sp08/jan/2020.1-222 fatcat:ovsvmyi76ret5pnyfin443lhii

No Time to Waste: Transcriptome Study Reveals that Drought Tolerance in Barley May Be Attributed to Stressed-Like Expression Patterns that Exist before the Occurrence of Stress

Agnieszka Janiak, Miroslaw Kwasniewski, Marta Sowa, Katarzyna Gajek, Katarzyna Żmuda, Janusz Kościelniak, Iwona Szarejko
2018 Frontiers in Plant Science  
The integrity of the RNA was checked using denaturation agarose gel electrophoresis using pre-cast gels and FlashGel RNA System (Lonza, Switzerland).  ...  ., 2014) and their accumulation in roots may be required for ABA-driven drought response.  ... 
doi:10.3389/fpls.2017.02212 pmid:29375595 pmcid:PMC5767312 fatcat:3ppkza3bv5eexo2irf4g7zky6m

Arabidopsis REI-LIKE proteins activate ribosome biogenesis during cold acclimation

Bo Eng Cheong, Olga Beine-Golovchuk, Michal Gorka, William Wing, Martinez-Seidel, Pereira Firmino, Aleksandra Skirycz, Ute Roessner, Joachim Kopka, Alexandre Augusto Pereira
2020 unpublished
Expression of amino-92 terminal FLUORESCENT PROTEIN (FP)-REIL fusion proteins driven by the UBIQUITIN10 93 promoter rescue the mutant phenotypes (Beine-Golovchuk et al., 2018).  ...  The double mutant maintains cellular integrity and acquires freezing tolerance 91 after shifts from 20°C to 4°C or 10°C cold (Beine-Golovchuk et al., 2018).  ...  fractionation experiments DS1 and DS2, i.e. the root subset repository data set PXD016292.  ... 
doi:10.13140/rg.2.2.18139.11048 fatcat:kb3ph4muwrekfpgavfowezligy

MOSAICmodeling PlantDesign

Sandra Fillinger, Technische Universität Berlin, Technische Universität Berlin, Jens-Uwe Repke, Günter Wozny
In this thesis, the concept and the implementation of the integrated engineering tool PlantDesign have been developed.  ...  PlantDesign is an assistant system for the automated design of Modular Process Units (MPUs) with a high level of detail with respect to constructions as they consist of equipment, close and internal piping  ...  Important aspects of their digital asset approach are the «consistency across teams and disciplines» using «fully integrated applications and one central engineering information repository» as well as  ... 
doi:10.14279/depositonce-9629 fatcat:7jb272go55esje7uxvbac2amrq

Nanogenomik und Nanoproteomik zur Ermöglichung personalisierter, voraussagender und präventiver Medizin

Nicola Luigi Bragazzi
Inspired by the incredible wealth of data generated by the "omics"-driven techniques and the "high-trouhgput technologies" (HTTs), I have tried to develop a protocol that could reduce the actually extant  ...  I also felt the urgent need to integrate the most important omics sciences, that is to say genomics and proteomics.  ...  The comprehensive search is usually carried out mining different databases and repositories containing DNA micro-arrays data, integrating the obtained hits.  ... 
doi:10.17192/z2014.0241 fatcat:5tgkghgomrfmrl6xdfkltv27xi
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