Deep learning: new computational modelling techniques for genomics

G Eraslan, Ž Avsec, J Gagneur, FJ Theis - Nature reviews genetics, 2019 - nature.com
As a data-driven science, genomics largely utilizes machine learning to capture
dependencies in data and derive novel biological hypotheses. However, the ability to extract …

JASPAR 2020: update of the open-access database of transcription factor binding profiles

O Fornes, JA Castro-Mondragon, A Khan… - Nucleic acids …, 2020 - academic.oup.com
Abstract JASPAR (http://jaspar. genereg. net) is an open-access database of curated, non-
redundant transcription factor (TF)-binding profiles stored as position frequency matrices …

Base-resolution models of transcription-factor binding reveal soft motif syntax

Ž Avsec, M Weilert, A Shrikumar, S Krueger… - Nature …, 2021 - nature.com
The arrangement (syntax) of transcription factor (TF) binding motifs is an important part of the
cis-regulatory code, yet remains elusive. We introduce a deep learning model, BPNet, that …

[HTML][HTML] Deep learning for inferring transcription factor binding sites

PK Koo, M Ploenzke - Current opinion in systems biology, 2020 - Elsevier
Deep learning is a powerful tool for predicting transcription factor binding sites from DNA
sequence. Despite their high predictive accuracy, there are no guarantees that a high …

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 …

Improving representations of genomic sequence motifs in convolutional networks with exponential activations

PK Koo, M Ploenzke - Nature machine intelligence, 2021 - nature.com
Deep convolutional neural networks (CNNs) trained on regulatory genomic sequences tend
to build representations in a distributed manner, making it a challenge to extract learned …

Representation learning of genomic sequence motifs with convolutional neural networks

PK Koo, SR Eddy - PLoS computational biology, 2019 - journals.plos.org
Although convolutional neural networks (CNNs) have been applied to a variety of
computational genomics problems, there remains a large gap in our understanding of how …

Integrating regulatory DNA sequence and gene expression to predict genome-wide chromatin accessibility across cellular contexts

S Nair, DS Kim, J Perricone, A Kundaje - Bioinformatics, 2019 - academic.oup.com
Motivation Genome-wide profiles of chromatin accessibility and gene expression in diverse
cellular contexts are critical to decipher the dynamics of transcriptional regulation. Recently …

Interpretable detection of novel human viruses from genome sequencing data

JM Bartoszewicz, A Seidel… - NAR genomics and …, 2021 - academic.oup.com
Viruses evolve extremely quickly, so reliable methods for viral host prediction are necessary
to safeguard biosecurity and biosafety alike. Novel human-infecting viruses are difficult to …

GkmExplain: fast and accurate interpretation of nonlinear gapped k-mer SVMs

A Shrikumar, E Prakash, A Kundaje - Bioinformatics, 2019 - academic.oup.com
Abstract Summary Support Vector Machines with gapped k-mer kernels (gkm-SVMs) have
been used to learn predictive models of regulatory DNA sequence. However, interpreting …