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 …

Decoding enhancer complexity with machine learning and high-throughput discovery

GD Smith, WH Ching, P Cornejo-Páramo, ES Wong - Genome biology, 2023 - Springer
Enhancers are genomic DNA elements controlling spatiotemporal gene expression. Their
flexible organization and functional redundancies make deciphering their sequence-function …

Network models to enhance the translational impact of cross-species studies

JK Brynildsen, K Rajan, MX Henderson… - Nature Reviews …, 2023 - nature.com
Neuroscience studies are often carried out in animal models for the purpose of
understanding specific aspects of the human condition. However, the translation of findings …

Genomics enters the deep learning era

E Routhier, J Mozziconacci - PeerJ, 2022 - peerj.com
The tremendous amount of biological sequence data available, combined with the recent
methodological breakthrough in deep learning in domains such as computer vision or …

Gapped-kmer sequence modeling robustly identifies regulatory vocabularies and distal enhancers conserved between evolutionarily distant mammals

JW Oh, MA Beer - Nature communications, 2024 - nature.com
Gene regulatory elements drive complex biological phenomena and their mutations are
associated with common human diseases. The impacts of human regulatory variants are …

Domain-adaptive neural networks improve supervised machine learning based on simulated population genetic data

Z Mo, A Siepel - PLoS Genetics, 2023 - journals.plos.org
Investigators have recently introduced powerful methods for population genetic inference
that rely on supervised machine learning from simulated data. Despite their performance …

Machine learning sequence prioritization for cell type-specific enhancer design

AJ Lawler, E Ramamurthy, AR Brown, N Shin, Y Kim… - Elife, 2022 - elifesciences.org
Recent discoveries of extreme cellular diversity in the brain warrant rapid development of
technologies to access specific cell populations within heterogeneous tissue. Available …

Computational approaches to understand transcription regulation in development

M van der Sande, S Frölich… - Biochemical Society …, 2023 - portlandpress.com
Gene regulatory networks (GRNs) serve as useful abstractions to understand transcriptional
dynamics in developmental systems. Computational prediction of GRNs has been …

Gene regulatory network inference in soybean upon infection by Phytophthora sojae

B Hale, S Ratnayake, A Flory, R Wijeratne, C Schmidt… - Plos one, 2023 - journals.plos.org
Phytophthora sojae is a soil-borne oomycete and the causal agent of Phytophthora root and
stem rot (PRR) in soybean (Glycine max [L.] Merrill). Yield losses attributed to P. sojae are …

Asymmetric predictive relationships across histone modifications

H Li, Y Guan - Nature machine intelligence, 2022 - nature.com
Decoding the epigenomic landscapes in diverse tissues and cell types is fundamental to
understanding molecular mechanisms underlying many essential cellular processes and …