Deep learning: new computational modelling techniques for genomics

G Eraslan, Ž Avsec, J Gagneur, FJ Theis - Nature Reviews Genetics, 2019 - nature.com
As a data-driven science, genomics largely utilizes machine learning to capture
dependencies in data and derive novel biological hypotheses. However, the ability to extract …

Machine learning in genomic medicine: a review of computational problems and data sets

MKK Leung, A Delong, B Alipanahi… - Proceedings of the …, 2015 - ieeexplore.ieee.org
In this paper, we provide an introduction to machine learning tasks that address important
problems in genomic medicine. One of the goals of genomic medicine is to determine how …

Predicting effects of noncoding variants with deep learning–based sequence model

J Zhou, OG Troyanskaya - Nature methods, 2015 - nature.com
Identifying functional effects of noncoding variants is a major challenge in human genetics.
To predict the noncoding-variant effects de novo from sequence, we developed a deep …

Effective gene expression prediction from sequence by integrating long-range interactions

Ž Avsec, V Agarwal, D Visentin, JR Ledsam… - Nature …, 2021 - nature.com
How noncoding DNA determines gene expression in different cell types is a major unsolved
problem, and critical downstream applications in human genetics depend on improved …

An automated framework for efficiently designing deep convolutional neural networks in genomics

Z Zhang, CY Park, CL Theesfeld… - Nature Machine …, 2021 - nature.com
Convolutional neural networks (CNNs) have become a standard for analysis of biological
sequences. Tuning of network architectures is essential for a CNN's performance, yet it …

Deep learning of genomic variation and regulatory network data

A Telenti, C Lippert, PC Chang… - Human molecular …, 2018 - academic.oup.com
The human genome is now investigated through high-throughput functional assays, and
through the generation of population genomic data. These advances support the …

Benchmarking of deep neural networks for predicting personal gene expression from DNA sequence highlights shortcomings

A Sasse, B Ng, AE Spiro, S Tasaki, DA Bennett… - Nature Genetics, 2023 - nature.com
Deep learning methods have recently become the state of the art in a variety of regulatory
genomic tasks,,,,–, including the prediction of gene expression from genomic DNA. As such …

Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk

J Zhou, CL Theesfeld, K Yao, KM Chen, AK Wong… - Nature …, 2018 - nature.com
Key challenges for human genetics, precision medicine and evolutionary biology include
deciphering the regulatory code of gene expression and understanding the transcriptional …

Cross-species regulatory sequence activity prediction

DR Kelley - PLoS computational biology, 2020 - journals.plos.org
Machine learning algorithms trained to predict the regulatory activity of nucleic acid
sequences have revealed principles of gene regulation and guided genetic variation …

[HTML][HTML] Deep learning for inferring transcription factor binding sites

PK Koo, M Ploenzke - Current opinion in systems biology, 2020 - Elsevier
Deep learning is a powerful tool for predicting transcription factor binding sites from DNA
sequence. Despite their high predictive accuracy, there are no guarantees that a high …