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Updated: Jun 19, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

EnhancerDetector : Enhancer Discovery from Human to Fly via Interpretable Deep Learning.

Luis M Solis, Geyenna Sterling-Lentsch, Marc S Halfon

Biorxiv : the Preprint Server for Biology

|June 12, 2025

Summary

EnhancerDetector, a new AI tool, accurately predicts gene-regulating DNA enhancers across species. It offers biological insights and works even with limited data, aiding genetic research.

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Last Updated: Jun 19, 2026

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AAV Deployment of Enhancer-Based Expression Constructs In Vivo in Mouse Brain

AAV Deployment of Enhancer-Based Expression Constructs In Vivo in Mouse Brain

Published on: March 31, 2022

Area of Science:

Genomics
Computational Biology
Molecular Biology

Background:

Enhancers are crucial non-coding DNA elements regulating gene expression.
Accurate identification of enhancers is a significant challenge in genomics.

Purpose of the Study:

To introduce EnhancerDetector, a novel framework for cross-species enhancer prediction.
To combine high accuracy with biological interpretability in enhancer identification.

Main Methods:

Development of a convolutional neural network-based framework (EnhancerDetector).
Training on human data and testing across human, mouse, and fly datasets.
Application of class activation maps for identifying predictive sequence regions.

Main Results:

EnhancerDetector outperforms existing methods in precision and F1 score across species.
The framework demonstrates effective generalization to diverse experimental assay datasets.
Experimental validation in transgenic flies confirmed predictive power, with 5/6 candidates showing reporter expression.

Conclusions:

EnhancerDetector provides a practical, accurate, and interpretable framework for enhancer discovery.
The tool is adaptable for new species and effective with limited genomic data.
Identified sequence features define a characteristic "enhancerness" signature.