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 …

Artificial intelligence aids in development of nanomedicines for cancer management

P Tan, X Chen, H Zhang, Q Wei, K Luo - Seminars in cancer biology, 2023 - Elsevier
Over the last decade, the nanomedicine has experienced unprecedented development in
diagnosis and management of diseases. A number of nanomedicines have been approved …

Hyenadna: Long-range genomic sequence modeling at single nucleotide resolution

E Nguyen, M Poli, M Faizi, A Thomas… - Advances in neural …, 2024 - proceedings.neurips.cc
Genomic (DNA) sequences encode an enormous amount of information for gene regulation
and protein synthesis. Similar to natural language models, researchers have proposed …

[HTML][HTML] Effective gene expression prediction from sequence by integrating long-range interactions

Ž Avsec, V Agarwal, D Visentin, JR Ledsam… - Nature …, 2021 - nature.com
How noncoding DNA determines gene expression in different cell types is a major unsolved
problem, and critical downstream applications in human genetics depend on improved …

The evolution, evolvability and engineering of gene regulatory DNA

ED Vaishnav, CG de Boer, J Molinet, M Yassour, L Fan… - Nature, 2022 - nature.com
Mutations in non-coding regulatory DNA sequences can alter gene expression, organismal
phenotype and fitness,–. Constructing complete fitness landscapes, in which DNA …

[HTML][HTML] CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

P Rentzsch, M Schubach, J Shendure, M Kircher - Genome medicine, 2021 - Springer
Background Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate
synthesis of human proteins. Genetic variants impacting splicing underlie a substantial …

[HTML][HTML] Multimodal deep learning models for early detection of Alzheimer's disease stage

J Venugopalan, L Tong, HR Hassanzadeh… - Scientific reports, 2021 - nature.com
Most current Alzheimer's disease (AD) and mild cognitive disorders (MCI) studies use single
data modality to make predictions such as AD stages. The fusion of multiple data modalities …

Big bird: Transformers for longer sequences

M Zaheer, G Guruganesh, KA Dubey… - Advances in neural …, 2020 - proceedings.neurips.cc
Transformers-based models, such as BERT, have been one of the most successful deep
learning models for NLP. Unfortunately, one of their core limitations is the quadratic …

DNABERT: pre-trained Bidirectional Encoder Representations from Transformers model for DNA-language in genome

Y Ji, Z Zhou, H Liu, RV Davuluri - Bioinformatics, 2021 - academic.oup.com
Motivation Deciphering the language of non-coding DNA is one of the fundamental
problems in genome research. Gene regulatory code is highly complex due to the existence …

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes

J Schwartzentruber, S Cooper, JZ Liu… - Nature …, 2021 - nature.com
Genome-wide association studies have discovered numerous genomic loci associated with
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …