Deep learning for regulatory genomics

Yongjin Park; Manolis Kellis

doi:10.1038/nbt.3313

Identifying Regulatory Elements via Deep Learning

Annual Review of Biomedical Data Science ◽

10.1146/annurev-biodatasci-022020-021940 ◽

2020 ◽

Vol 3 (1) ◽

pp. 315-338

Author(s):

Mira Barshai ◽

Eitamar Tripto ◽

Yaron Orenstein

Keyword(s):

Neural Networks ◽

Deep Learning ◽

Deep Neural Networks ◽

Rna Binding ◽

Building Blocks ◽

Regulatory Elements ◽

Image Features ◽

Great Success ◽

Unique Challenge ◽

Regulatory Genomics

Deep neural networks have been revolutionizing the field of machine learning for the past several years. They have been applied with great success in many domains of the biomedical data sciences and are outperforming extant methods by a large margin. The ability of deep neural networks to pick up local image features and model the interactions between them makes them highly applicable to regulatory genomics. Instead of an image, the networks analyze DNA and RNA sequences and additional epigenomic data. In this review, we survey the successes of deep learning in the field of regulatory genomics. We first describe the fundamental building blocks of deep neural networks, popular architectures used in regulatory genomics, and their training process on molecular sequence data. We then review several key methods in different gene regulation domains. We start with the pioneering method DeepBind and its successors, which were developed to predict protein–DNA binding. We then review methods developed to predict and model epigenetic information, such as histone marks and nucleosome occupancy. Following epigenomics, we review methods to predict protein–RNA binding with its unique challenge of incorporating RNA structure information. Finally, we provide our overall view of the strengths and weaknesses of deep neural networks and prospects for future developments.

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Deep Learning

10.1017/cbo9780511780295 ◽

2009 ◽

Cited By ~ 94

Author(s):

Stellan Ohlsson

Keyword(s):

Deep Learning

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Intelligence artificielle : le futur de l’Orthodontie ?

Revue d Orthopédie Dento-Faciale ◽

10.1051/odf/2019026 ◽

2019 ◽

Vol 53 (3) ◽

pp. 281-294

Author(s):

Jean-Michel Foucart ◽

Augustin Chavanne ◽

Jérôme Bourriau

Keyword(s):

Big Data ◽

Deep Learning ◽

Intelligence Artificielle ◽

Set Up

Nombreux sont les apports envisagés de l’Intelligence Artificielle (IA) en médecine. En orthodontie, plusieurs solutions automatisées sont disponibles depuis quelques années en imagerie par rayons X (analyse céphalométrique automatisée, analyse automatisée des voies aériennes) ou depuis quelques mois (analyse automatique des modèles numériques, set-up automatisé; CS Model +, Carestream Dental™). L’objectif de cette étude, en deux parties, est d’évaluer la fiabilité de l’analyse automatisée des modèles tant au niveau de leur numérisation que de leur segmentation. La comparaison des résultats d’analyse des modèles obtenus automatiquement et par l’intermédiaire de plusieurs orthodontistes démontre la fiabilité de l’analyse automatique; l’erreur de mesure oscillant, in fine, entre 0,08 et 1,04 mm, ce qui est non significatif et comparable avec les erreurs de mesures inter-observateurs rapportées dans la littérature. Ces résultats ouvrent ainsi de nouvelles perspectives quand à l’apport de l’IA en Orthodontie qui, basée sur le deep learning et le big data, devrait permettre, à moyen terme, d’évoluer vers une orthodontie plus préventive et plus prédictive.

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