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Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms

Alina Guna, Nancy J. Butcher, Anne S. Bassett
2015 Journal of Neurodevelopmental Disorders  
This comparative multi-species study provides novel resources and support for the potential utility of non-mouse models in expression studies and high-throughput drug screening.  ...  Neurodevelopmental phenotypes, including intellectual disability, are also prominent though variable in severity. Other developmental features include congenital cardiac and craniofacial anomalies.  ...  More phenotypic information was available for mutants in the fruit fly (13 of 17 genes) and worm (15 genes), possibly due to the use of forward genetic screens in these organisms [47, 48] .  ... 
doi:10.1186/s11689-015-9113-x pmid:26137170 pmcid:PMC4487986 fatcat:trnbftl6nraghj7z6zfctfhrf4

Path to precision: prevention of post-operative atrial fibrillation

Rinku Skaria, Saman Parvaneh, Sophia Zhou, James Kim, Santana Wanjiru, Genoveffa Devers, John Konhilas, Zain Khalpey
2020 Journal of Thoracic Disease  
With the advent of more complex machine learning (ML) algorithms and high-throughput sequencing, we have an unprecedented ability to capture and predict POAF in real-time.  ...  Despite advancements in medical therapies, the incidence of POAF remains elevated at 25-40%.  ...  POAF mechanistic hypotheses, help define novel functional POAF phenotypes, and guide medical therapy.  ... 
doi:10.21037/jtd-19-3875 pmid:32642182 pmcid:PMC7330352 fatcat:wezgywsk7bfmngdlur5cjtzp7q

Animal models and animal-free innovations for cardiovascular research: current status and routes to be explored. Consensus document of the ESC working group on myocardial function and the ESC Working Group on Cellular Biology of the Heart

Jolanda van der Velden, Folkert W Asselbergs, Jeroen Bakkers, Sandor Batkai, Luc Bertrand, Connie R Bezzina, Ilze Bot, Bianca Brundel, Lucie Carrier, Steven Chamuleau, Michele Ciccarelli, Dana Dawson (+49 others)
2022 Cardiovascular Research  
Cardiovascular diseases represent a major cause of morbidity and mortality, necessitating research to improve diagnostics, and to discover and test novel preventive and curative therapies.  ...  In this position paper, we highlight recent advances in trying to reduce the number of animals for cardiovascular research ranging from stem cell-derived models to in situ modelling of heart properties  ...  Acknowledgements We thank Dr Marianna Barbuto and Stefano Rizzi from the Unita `di Ingegneria Tissutale Cardiovascolare, Centro cardiologico Monzino, IRCCS in Milan, Italy, for the conception of the Figures  ... 
doi:10.1093/cvr/cvab370 pmid:34999816 fatcat:xwsham5baza43nx6la5nqpvtli

Blueprint for cancer research: Critical gaps and opportunities

Lynne W Elmore, Susanna F Greer, Elvan C Daniels, Charles C Saxe, Michael H Melner, Ginger M Krawiec, William G Cance, William C Phelps
2020 Ca  
Advances in screening, targeted and immune therapies, big data, computational methodologies, and significant new knowledge of cancer biology are transforming the ways in which we prevent, detect, diagnose  ...  We are experiencing a revolution in cancer.  ...  Screening-specific issues often center on needs for improved prognostic content, patient discomfort, which discourages use, or a need for confirmational testing.  ... 
doi:10.3322/caac.21652 pmid:33326126 fatcat:rvctjp5ldvg4dohxvvhv2b6wau

DeepBacs: Bacterial image analysis using open-source deep learning approaches [article]

Christoph Spahn, Romain F. Laine, Pedro Matos Pereira, Estibaliz Gómez-de-Mariscal, Lucas von Chamier, Mia Conduit, Mariana G Pinho, Séamus Holden, Guillaume Jacquemet, Mike Heilemann, Ricardo Henriques
2021 bioRxiv   pre-print
Thus far, these approaches have mainly focused on analysing microscopy images from eukaryotic samples and are still underused in microbiology.  ...  , and carry out DL-assisted phenotypic profiling of antibiotic-treated cells.  ...  This will result in comprehensive models that can be employed for automatic screening of large compound libraries (3) and might contribute to the discovery of novel antimicrobial compounds, which is desperately  ... 
doi:10.1101/2021.11.03.467152 fatcat:x7mjlbmx3bd4pbwh7zf2sqxsya

Modern Approaches for the Genetic Improvement of Rice, Wheat and Maize for Abiotic Constraints-Related Traits: A Comparative Overview

Elena Benavente, Estela Giménez
2021 Agronomy  
Heat tolerance is usually more relevant than NUE in rice and wheat, while the opposite is true for maize.  ...  ., QTL mapping, GWAS and genomic selection; transcriptomics, qPCR and RNA-seq; transgenesis and gene editing), this review paper describes their history and the main achievements in rice, wheat and maize  ...  a real use of these novel methodologies to any breeding topic.  ... 
doi:10.3390/agronomy11020376 fatcat:gxrhjnytf5b73jcwxi6yw6vefa

Plant Genomics in Africa: Present and prospects

Hassan Ghazal, Yagoub Adam, Abdellah Idrissi Azami, Sofia Sehli, Hannah N Nyarko, Bouchra Chaouni, Grace Olasehinde, Itunuoluwa Isewon, Marion Adebiyi, Olayinka Ajani, Enock Matovu, Olawole Obembe (+6 others)
2021 The Plant Journal  
Plants are the world's most consumed goods and they possess high economic and health values.  ...  In most countries in Africa, the supply and quality of food will rise to meet the growing population's increasing demand.  ...  by the US NIH.  ... 
doi:10.1111/tpj.15272 pmid:33837593 fatcat:l7yiiypr65huplgoty32vdahoe

Opportunities and obstacles for deep learning in biology and medicine

Travers Ching, Daniel S. Himmelstein, Brett K. Beaulieu-Jones, Alexandr A. Kalinin, Brian T. Do, Gregory P. Way, Enrico Ferrero, Paul-Michael Agapow, Michael Zietz, Michael M. Hoffman, Wei Xie, Gail L. Rosen (+24 others)
2018 Journal of the Royal Society Interface  
Deep learning describes a class of machine learning algorithms that are capable of combining raw inputs into layers of intermediate features.  ...  Though progress has been made linking a specific neural network's prediction to input features, understanding how users should interpret these models to make testable hypotheses about the system under  ...  We thank Aaron Sheldon, who contributed text but did not formally approve the manuscript; Anna Greene for a careful proofreading of the manuscript in advance of the first submission; Sebastian Raschka  ... 
doi:10.1098/rsif.2017.0387 pmid:29618526 pmcid:PMC5938574 fatcat:65o4xmp53nc6zmj37srzuht6tq

Big Data for Health

Javier Andreu-Perez, Carmen C. Y. Poon, Robert D. Merrifield, Stephen T. C. Wong, Guang-Zhong Yang
2015 IEEE journal of biomedical and health informatics  
This paper provides an overview of recent developments in big data in the context of biomedical and health informatics.  ...  The rise of big data, however, also raises challenges in terms of privacy, security, data ownership, data stewardship, and governance.  ...  Therefore, it is cost effective to use the genotype-guided method to screen carrier of CYP2C19 LOF allele(s) when using antiplatelets in high-risk ACS patients [54] . B.  ... 
doi:10.1109/jbhi.2015.2450362 pmid:26173222 fatcat:wdmtokdztffmjavdosqcjxiyxm

Presented Abstracts from the Thirty Third Annual Education Conference of the National Society of Genetic Counselors (New Orleans, LA, September 2014)

Emily Edelman, Beverly M. Yashar, Katie Darin
2014 Journal of Genetic Counseling  
phenotypes, including non-cancer related features, especially when other testing options have been exhausted.  ...  In addition, our data shows that novel gene findings were significantly more likely among patients with cancer-phenotypes than among other indications for testing.  ...  We used Atlas.ti software to identify and code themes that emerged from the interview transcripts.  ... 
doi:10.1007/s10897-014-9778-4 fatcat:lqx3ok2o7vadbf7k6p5ggzwq6y

Scaling by shrinking: empowering single-cell 'omics' with microfluidic devices

Sanjay M. Prakadan, Alex K. Shalek, David A. Weitz
2017 Nature reviews genetics  
Not surprisingly, these findings have elicited substantial interest in deeply characterizing the diversity, interrelationships and plasticity among cellular phenotypes.  ...  At first this classification relied on macroscopic observables (such as anatomical location, gross morphology, origin or distinct behaviours) but has gradually become driven by more nuanced molecular characteristics  ...  which are then screened with a fitness assay to isolate a desired phenotype.  ... 
doi:10.1038/nrg.2017.15 pmid:28392571 pmcid:PMC5495114 fatcat:uy6wgrc3effsnfhp7a3vumdiwy

Genomics of Wild Relatives and Alien Introgressions [chapter]

Elodie Rey, István Molnár, Jaroslav Doležel
2015 Alien Introgression in Wheat  
Acknowledgments We thank our colleagues Michael Abrouk, Veronika Burešová, and Gabriella Linc for useful comments and sharing their unpublished results.  ...  and their elimination using suitable large-scale screening platforms.  ...  and efficiency (Schlegel et al. 1998 , lodging resistance , heat tolerance (Pradhan and Prasad 2015) , high dietary fibre content (Cseh et al. 2011) , and high protein content (Pace et al. 2001) .  ... 
doi:10.1007/978-3-319-23494-6_13 fatcat:tf52n2garneoddeav3dfaanp5i

Revisiting the Domestication Process of African Vigna Species (Fabaceae): Background, Perspectives and Challenges

Davide Panzeri, Werther Guidi Nissim, Massimo Labra, Fabrizio Grassi
2022 Plants  
Legumes are one of the most economically important and biodiverse families in plants recognised as the basis to develop functional foods.  ...  We provided a brief summary of bioactive compounds naturally occurring in these species that are fundamental for human wellbeing.  ...  Screening the level of introgression already existing in nature is an important opportunity that can help us to obtain advanced information useful in breeding activity.  ... 
doi:10.3390/plants11040532 pmid:35214865 pmcid:PMC8879845 fatcat:tjfhzdgf5bebbgrte36iprtfse

6th Update on Fabry Disease: Biomarkers, Progression and Treatment Opportunities

2019 Nephron  
This model can be an effective tool to better understand the pathophysiology of Fabry podocytopathy and discovery of novel treatment options in podocytes which are more resistant to the currently available  ...  We present the phenotypic diversity in patients with Fabry disease, the long-term effects of ERT, and highlight patients with unusual phenotypes attributable to their unique or novel GLA mutations.  ...  Enzyme therapy is used to treat Fabry disease although the cost is high with biweekly infusions required long-term.  ... 
doi:10.1159/000500644 pmid:31117083 fatcat:4opijiel65bb5krrpp4jiqhkxi

Genomics of plant abiotic stress tolerance [chapter]

Dong-ha Oh, Maheshi Dassanayake, Hyewon Hong, Suja George, Seol Ki Paeng, Anna Kropornika, Ray A. Bressan, Sang Yeol Lee, Dae-Jin Yun, Hans J. Bohnert
2014 Plant Abiotic Stress  
All brand names and product names used in this book are trade names, service marks, trademarks or registered trademarks of their respective owners.  ...  Limit of Liability/Disclaimer of Warranty: While the publisher and author(s) have used their best efforts in preparing this book, they make no representations or warranties with respect to the accuracy  ...  Acknowledgements Work in the Verslues laboratory is supported by the Academia Sinica and National Science Council of Taiwan.  ... 
doi:10.1002/9781118764374.ch9 fatcat:rjsroboo2vgc7hyja7s5tporhq
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