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 …

[PDF][PDF] Deciphering the multi-scale, quantitative cis-regulatory code

S Kim, J Wysocka - Molecular cell, 2023 - cell.com
Uncovering the cis-regulatory code that governs when and how much each gene is
transcribed in a given genome and cellular state remains a central goal of biology. Here, we …

Compatibility rules of human enhancer and promoter sequences

DT Bergman, TR Jones, V Liu, J Ray, E Jagoda, L Siraj… - Nature, 2022 - nature.com
Gene regulation in the human genome is controlled by distal enhancers that activate specific
nearby promoters. A proposed model for this specificity is that promoters have sequence …

Current challenges in understanding the role of enhancers in disease

JB Zaugg, P Sahlén, R Andersson… - Nature Structural & …, 2022 - nature.com
Enhancers play a central role in the spatiotemporal control of gene expression and tend to
work in a cell-type-specific manner. In addition, they are suggested to be major contributors …

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 …

[PDF][PDF] Systematic analysis of intrinsic enhancer-promoter compatibility in the mouse genome

M Martinez-Ara, F Comoglio, J van Arensbergen… - Molecular cell, 2022 - cell.com
Gene expression is in part controlled by cis-regulatory elements (CREs) such as enhancers
and repressive elements. Anecdotal evidence has indicated that a CRE and a promoter …

Hold out the genome: a roadmap to solving the cis-regulatory code

CG de Boer, J Taipale - Nature, 2024 - nature.com
Gene expression is regulated by transcription factors that work together to read cis-
regulatory DNA sequences. The 'cis-regulatory code'—how cells interpret DNA sequences …

DeepVelo: Single-cell transcriptomic deep velocity field learning with neural ordinary differential equations

Z Chen, WC King, A Hwang, M Gerstein, J Zhang - Science advances, 2022 - science.org
Recent advances in single-cell sequencing technologies have provided unprecedented
opportunities to measure the gene expression profile and RNA velocity of individual cells …

Regulatory activity is the default DNA state in eukaryotes

I Luthra, C Jensen, XE Chen, AL Salaudeen… - Nature Structural & …, 2024 - nature.com
Genomes encode for genes and non-coding DNA, both capable of transcriptional activity.
However, unlike canonical genes, many transcripts from non-coding DNA have limited …

Multiplex profiling of developmental cis-regulatory elements with quantitative single-cell expression reporters

JB Lalanne, SG Regalado, S Domcke, D Calderon… - Nature …, 2024 - nature.com
The inability to scalably and precisely measure the activity of developmental cis-regulatory
elements (CREs) in multicellular systems is a bottleneck in genomics. Here we develop a …