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<p> Deep learning (DL) has become a popular tool to study cis-regulatory element function. Yet efforts<br />to design software for DL analyses in genomics that are Findable, Accessible, Interoperable and<br />Reusable (FAIR) have fallen short of fully meeting these criteria.</p> <p>Here we present EUGENe<br />(Elucidating the Utility of Genomic Elements with Neural Nets), a FAIR toolkit for the analysis of<br />labeled sets of nucleotide sequences with DL. EUGENe consists of a set of modules that<br />empower users to execute the key functionality of a DL workflow:</p> <p>1) extracting, transforming and<br />loading sequence data from many common file formats,</p> <p>2) instantiating, initializing and training<br />diverse model architectures, and</p> <p>3) evaluating and interpreting model behavior.</p> <p>We designed EUGENe to be simple; users can develop and deploy workflows on new or existing datasets with<br />functions that act on two customizable Python objects, annotated sequence data (SeqData) and<br />PyTorch models (BaseModel).</p> <p>The modularity and simplicity of EUGENe also make it highly<br />extensible and we illustrate these principles through application of the toolkit to three predictive<br />modeling tasks. First, we train and compare a set of built-in models along with a custom<br />architecture for the accurate prediction of activities of plant promoters from STARR-seq data.<br />Next, we apply EUGENe to an RNA binding prediction task and showcase how seminal model<br />architectures can be retrained in EUGENe or imported from Kipoi. Finally, we train models to<br />classify transcription factor binding by wrapping functionality from Janngu, which can efficiently<br />extract sequences in BED file format from the human genome. We emphasize that the code used<br />in each use case is simple, readable, and well documented (https://eugene-<br />tools.readthedocs.io/en/latest/index.html).</p> <p>We believe that EUGENe represents a springboard<br />toward a collaborative ecosystem for DL applications in genomics research. EUGENe is available<br />for download on GitHub (https://github.com/cartercompbio/EUGENe) along with several<br />introductory tutorials and for installation on PyPi (https://pypi.org/proje</p>
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deep learning (47.7%), sequencing (45.8%), bioinformatica (45.8%), analisi (45.6%), genoma (44.3%), genomica (44.2%), epigenetica (43.3%), biobanca genomica (43.2%), genetica (42.1%), trascrittomica (41.4%), diagnostica (41.2%), linear_regression (41.1%), benchmark (40.4%), ricerca (40.3%), gene (39.7%), OGM (38.5%), lmp (38.3%), glossario (37.4%), ancestry (37.2%), abstract (37.1%)
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