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 …

Applying interpretable machine learning in computational biology—pitfalls, recommendations and opportunities for new developments

V Chen, M Yang, W Cui, JS Kim, A Talwalkar, J Ma - Nature methods, 2024 - nature.com
Recent advances in machine learning have enabled the development of next-generation
predictive models for complex computational biology problems, thereby spurring the use of …

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 …

Sequence determinants of human gene regulatory elements

B Sahu, T Hartonen, P Pihlajamaa, B Wei, K Dave… - Nature Genetics, 2022 - nature.com
DNA can determine where and when genes are expressed, but the full set of sequence
determinants that control gene expression is unknown. Here, we measured the …

Cell-type-directed design of synthetic enhancers

II Taskiran, KI Spanier, H Dickmänken, N Kempynck… - Nature, 2024 - nature.com
Transcriptional enhancers act as docking stations for combinations of transcription factors
and thereby regulate spatiotemporal activation of their target genes. It has been a long …

[HTML][HTML] Single-cell spatial multi-omics and deep learning dissect enhancer-driven gene regulatory networks in liver zonation

C Bravo Gonzalez-Blas, I Matetovici, H Hillen… - Nature Cell …, 2024 - nature.com
In the mammalian liver, hepatocytes exhibit diverse metabolic and functional profiles based
on their location within the liver lobule. However, it is unclear whether this spatial variation …

Chromatin accessibility in the Drosophila embryo is determined by transcription factor pioneering and enhancer activation

KJ Brennan, M Weilert, S Krueger, A Pampari, H Liu… - Developmental cell, 2023 - cell.com
Chromatin accessibility is integral to the process by which transcription factors (TFs) read out
cis-regulatory DNA sequences, but it is difficult to differentiate between TFs that drive …

Multiplexed single-cell characterization of alternative polyadenylation regulators

MH Kowalski, HH Wessels, J Linder, C Dalgarno… - Cell, 2024 - cell.com
Most mammalian genes have multiple polyA sites, representing a substantial source of
transcript diversity regulated by the cleavage and polyadenylation (CPA) machinery. To …

The genetic and biochemical determinants of mRNA degradation rates in mammals

V Agarwal, DR Kelley - Genome biology, 2022 - Springer
Background Degradation rate is a fundamental aspect of mRNA metabolism, and the factors
governing it remain poorly characterized. Understanding the genetic and biochemical …

Machine-guided design of cell-type-targeting cis-regulatory elements

SJ Gosai, RI Castro, N Fuentes, JC Butts, K Mouri… - Nature, 2024 - nature.com
Cis-regulatory elements (CREs) control gene expression, orchestrating tissue identity,
developmental timing and stimulus responses, which collectively define the thousands of …