A community effort to optimize sequence-based deep learning models of gene regulation

AM Rafi, D Nogina, D Penzar, D Lee, D Lee… - Nature …, 2024 - nature.com
A systematic evaluation of how model architectures and training strategies impact genomics
model performance is needed. To address this gap, we held a DREAM Challenge where …

Designing interpretable deep learning applications for functional genomics: a quantitative analysis

A Van Hilten, S Katz, E Saccenti… - Briefings in …, 2024 - academic.oup.com
Deep learning applications have had a profound impact on many scientific fields, including
functional genomics. Deep learning models can learn complex interactions between and …

CRISPR screening uncovers a long-range enhancer for ONECUT1 in pancreatic differentiation and links a diabetes risk variant

SJ Kaplan, W Wong, J Yan, J Pulecio, HS Cho, Q Li… - Cell reports, 2024 - cell.com
Functional enhancer annotation is critical for understanding tissue-specific transcriptional
regulation and prioritizing disease-associated non-coding variants. However, unbiased …

[HTML][HTML] Rewriting regulatory DNA to dissect and reprogram gene expression

GE Martyn, MT Montgomery, H Jones, K Guo… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Regulatory DNA sequences within enhancers and promoters bind transcription factors to
encode cell type-specific patterns of gene expression. However, the regulatory effects and …

[HTML][HTML] Just a SNP away: The future of in vivo massively parallel reporter assay

KN Degner, JL Bell, SD Jones, H Won - Cell Insight, 2024 - Elsevier
The human genome is largely noncoding, yet the field is still grasping to understand how
noncoding variants impact transcription and contribute to disease etiology. The massively …

Chromatin accessibility is a two-tier process regulated by transcription factor pioneering and enhancer activation

KJ Brennan, M Weilert, S Krueger, A Pampari, HY Liu… - bioRxiv, 2022 - biorxiv.org
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 …

[HTML][HTML] DNA-Diffusion: Leveraging Generative Models for Controlling Chromatin Accessibility and Gene Expression via Synthetic Regulatory Elements

LF DaSilva, S Senan, ZM Patel, AJ Reddy, S Gabbita… - bioRxiv, 2024 - ncbi.nlm.nih.gov
The challenge of systematically modifying and optimizing regulatory elements for precise
gene expression control is central to modern genomics and synthetic biology …

Flexible use of conserved motif vocabularies constrains genome access in cell type evolution

C Chai, J Gibson, P Li, A Pampari, A Patel… - …, 2024 - pmc.ncbi.nlm.nih.gov
Cell types evolve into a hierarchy with related types grouped into families. How cell type
diversification is constrained by the stable separation between families over vast …

Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart

XR Ma, SD Conley, M Kosicki, D Bredikhin, R Cui… - medRxiv, 2024 - medrxiv.org
Congenital heart defects (CHD) arise in part due to inherited genetic variants that alter
genes and noncoding regulatory elements in the human genome. These variants are …

EPInformer: a scalable deep learning framework for gene expression prediction by integrating promoter-enhancer sequences with multimodal epigenomic data

J Lin, R Luo, L Pinello - bioRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Transcriptional regulation, critical for cellular differentiation and adaptation to environmental
changes, involves coordinated interactions among DNA sequences, regulatory proteins, and …