Obtaining genetics insights from deep learning via explainable artificial intelligence

G Novakovsky, N Dexter, MW Libbrecht… - Nature Reviews …, 2023 - nature.com
Artificial intelligence (AI) models based on deep learning now represent the state of the art
for making functional predictions in genomics research. However, the underlying basis on …

A guide to machine learning for biologists

JG Greener, SM Kandathil, L Moffat… - Nature reviews Molecular …, 2022 - nature.com
The expanding scale and inherent complexity of biological data have encouraged a growing
use of machine learning in biology to build informative and predictive models of the …

Predicting RNA-seq coverage from DNA sequence as a unifying model of gene regulation

J Linder, D Srivastava, H Yuan, V Agarwal, DR Kelley - Nature Genetics, 2025 - nature.com
Sequence-based machine-learning models trained on genomics data improve genetic
variant interpretation by providing functional predictions describing their impact on the cis …

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 …

The evolution, evolvability and engineering of gene regulatory DNA

ED Vaishnav, CG de Boer, J Molinet, M Yassour, L Fan… - Nature, 2022 - nature.com
Mutations in non-coding regulatory DNA sequences can alter gene expression, organismal
phenotype and fitness,–. Constructing complete fitness landscapes, in which DNA …

Personal transcriptome variation is poorly explained by current genomic deep learning models

C Huang, RW Shuai, P Baokar, R Chung, R Rastogi… - Nature Genetics, 2023 - nature.com
Genomic deep learning models can predict genome-wide epigenetic features and gene
expression levels directly from DNA sequence. While current models perform well at …

DNABERT: pre-trained Bidirectional Encoder Representations from Transformers model for DNA-language in genome

Y Ji, Z Zhou, H Liu, RV Davuluri - Bioinformatics, 2021 - academic.oup.com
Motivation Deciphering the language of non-coding DNA is one of the fundamental
problems in genome research. Gene regulatory code is highly complex due to the existence …

A roadmap for multi-omics data integration using deep learning

M Kang, E Ko, TB Mersha - Briefings in Bioinformatics, 2022 - academic.oup.com
High-throughput next-generation sequencing now makes it possible to generate a vast
amount of multi-omics data for various applications. These data have revolutionized …

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 …, 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 …

Hopfield networks is all you need

H Ramsauer, B Schäfl, J Lehner, P Seidl… - arxiv preprint arxiv …, 2020 - arxiv.org
We introduce a modern Hopfield network with continuous states and a corresponding
update rule. The new Hopfield network can store exponentially (with the dimension of the …