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  1. Article ; Online: GenNet framework: interpretable deep learning for predicting phenotypes from genetic data.

    van Hilten, Arno / Kushner, Steven A / Kayser, Manfred / Ikram, M Arfan / Adams, Hieab H H / Klaver, Caroline C W / Niessen, Wiro J / Roshchupkin, Gennady V

    Communications biology

    2021  Volume 4, Issue 1, Page(s) 1094

    Abstract: Applying deep learning in population genomics is challenging because of computational issues and lack of interpretable models. Here, we propose GenNet, a novel open-source deep learning framework for predicting phenotypes from genetic variants. In this ... ...

    Abstract Applying deep learning in population genomics is challenging because of computational issues and lack of interpretable models. Here, we propose GenNet, a novel open-source deep learning framework for predicting phenotypes from genetic variants. In this framework, interpretable and memory-efficient neural network architectures are constructed by embedding biologically knowledge from public databases, resulting in neural networks that contain only biologically plausible connections. We applied the framework to seventeen phenotypes and found well-replicated genes such as HERC2 and OCA2 for hair and eye color, and novel genes such as ZNF773 and PCNT for schizophrenia. Additionally, the framework identified ubiquitin mediated proteolysis, endocrine system and viral infectious diseases as most predictive biological pathways for schizophrenia. GenNet is a freely available, end-to-end deep learning framework that allows researchers to develop and use interpretable neural networks to obtain novel insights into the genetic architecture of complex traits and diseases.
    MeSH term(s) Deep Learning ; Humans ; Neural Networks, Computer ; Phenotype
    Language English
    Publishing date 2021-09-17
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2399-3642
    ISSN (online) 2399-3642
    DOI 10.1038/s42003-021-02622-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Book ; Online: A Survey of Crowdsourcing in Medical Image Analysis

    Ørting, Silas / Doyle, Andrew / van Hilten, Arno / Hirth, Matthias / Inel, Oana / Madan, Christopher R. / Mavridis, Panagiotis / Spiers, Helen / Cheplygina, Veronika

    2019  

    Abstract: Rapid advances in image processing capabilities have been seen across many domains, fostered by the application of machine learning algorithms to "big-data". However, within the realm of medical image analysis, advances have been curtailed, in part, due ... ...

    Abstract Rapid advances in image processing capabilities have been seen across many domains, fostered by the application of machine learning algorithms to "big-data". However, within the realm of medical image analysis, advances have been curtailed, in part, due to the limited availability of large-scale, well-annotated datasets. One of the main reasons for this is the high cost often associated with producing large amounts of high-quality meta-data. Recently, there has been growing interest in the application of crowdsourcing for this purpose; a technique that has proven effective for creating large-scale datasets across a range of disciplines, from computer vision to astrophysics. Despite the growing popularity of this approach, there has not yet been a comprehensive literature review to provide guidance to researchers considering using crowdsourcing methodologies in their own medical imaging analysis. In this survey, we review studies applying crowdsourcing to the analysis of medical images, published prior to July 2018. We identify common approaches, challenges and considerations, providing guidance of utility to researchers adopting this approach. Finally, we discuss future opportunities for development within this emerging domain.

    Comment: Submitted to Human Computation
    Keywords Computer Science - Computer Vision and Pattern Recognition ; Computer Science - Human-Computer Interaction
    Subject code 006
    Publishing date 2019-02-25
    Publishing country us
    Document type Book ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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