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 …

A guide to machine learning for biologists

JG Greener, SM Kandathil, L Moffat… - Nature reviews Molecular …, 2022 - nature.com
The expanding scale and inherent complexity of biological data have encouraged a growing
use of machine learning in biology to build informative and predictive models of the …

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 …

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 …

Hopfield networks is all you need

H Ramsauer, B Schäfl, J Lehner, P Seidl… - arXiv preprint arXiv …, 2020 - arxiv.org
We introduce a modern Hopfield network with continuous states and a corresponding
update rule. The new Hopfield network can store exponentially (with the dimension of the …

Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus

DJ Downes, AR Cross, P Hua, N Roberts… - Nature …, 2021 - nature.com
The severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) disease (COVID-19)
pandemic has caused millions of deaths worldwide. Genome-wide association studies …

A roadmap for multi-omics data integration using deep learning

M Kang, E Ko, TB Mersha - Briefings in Bioinformatics, 2022 - academic.oup.com
High-throughput next-generation sequencing now makes it possible to generate a vast
amount of multi-omics data for various applications. These data have revolutionized …

[HTML][HTML] Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution

AE Trevino, F Müller, J Andersen, L Sundaram… - Cell, 2021 - cell.com
Genetic perturbations of cortical development can lead to neurodevelopmental disease,
including autism spectrum disorder (ASD). To identify genomic regions crucial to …

Wilds: A benchmark of in-the-wild distribution shifts

PW Koh, S Sagawa, H Marklund… - International …, 2021 - proceedings.mlr.press
Distribution shifts—where the training distribution differs from the test distribution—can
substantially degrade the accuracy of machine learning (ML) systems deployed in the wild …