To transformers and beyond: large language models for the genome

ME Consens, C Dufault, M Wainberg, D Forster… - arXiv preprint arXiv …, 2023 - arxiv.org
In the rapidly evolving landscape of genomics, deep learning has emerged as a useful tool
for tackling complex computational challenges. This review focuses on the transformative …

[HTML][HTML] 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 …

Interpreting cis-regulatory mechanisms from genomic deep neural networks using surrogate models

EE Seitz, DM McCandlish, JB Kinney… - Nature Machine …, 2024 - nature.com
Deep neural networks (DNNs) have greatly advanced the ability to predict genome function
from sequence. However, elucidating underlying biological mechanisms from genomic …

[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 …

SegmentNT: annotating the genome at single-nucleotide resolution with DNA foundation models

BP de Almeida, H Dalla-Torre, G Richard, C Blum… - bioRxiv, 2024 - biorxiv.org
Foundation models have achieved remarkable success in several fields such as natural
language processing, computer vision and more recently biology. DNA foundation models in …

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 …

[HTML][HTML] Interpreting cis-regulatory interactions from large-scale deep neural networks for genomics

S Toneyan, PK Koo - bioRxiv, 2023 - ncbi.nlm.nih.gov
The rise of large-scale, sequence-based deep neural networks (DNNs) for predicting gene
expression has introduced challenges in their evaluation and interpretation. Current …

Characterizing uncertainty in predictions of genomic sequence-to-activity models

A Bajwa, R Rastogi, P Kathail… - Machine Learning …, 2024 - proceedings.mlr.press
Genomic sequence-to-activity models are increasingly utilized to understand gene
regulatory syntax and probe the functional consequences of regulatory variation. Current …

[HTML][HTML] DRANetSplicer: A Splice Site Prediction Model Based on Deep Residual Attention Networks

X Liu, H Zhang, Y Zeng, X Zhu, L Zhu, J Fu - Genes, 2024 - mdpi.com
The precise identification of splice sites is essential for unraveling the structure and function
of genes, constituting a pivotal step in the gene annotation process. In this study, we …

[HTML][HTML] Evaluation and optimization of sequence-based gene regulatory deep learning models

AM Rafi, D Nogina, D Penzar, D Lee, D Lee, N Kim… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Neural networks have emerged as immensely powerful tools in predicting functional
genomic regions, notably evidenced by recent successes in deciphering gene regulatory …