AI Medical Compendium Journal:
Genome biology

Showing 21 to 30 of 89 articles

RUBICON: a framework for designing efficient deep learning-based genomic basecallers.

Genome biology
Nanopore sequencing generates noisy electrical signals that need to be converted into a standard string of DNA nucleotide bases using a computational step called basecalling. The performance of basecalling has critical implications for all later step...

AnnoPRO: a strategy for protein function annotation based on multi-scale protein representation and a hybrid deep learning of dual-path encoding.

Genome biology
Protein function annotation has been one of the longstanding issues in biological sciences, and various computational methods have been developed. However, the existing methods suffer from a serious long-tail problem, with a large number of GO famili...

RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci.

Genome biology
Expansions of tandem repeats (TRs) cause approximately 60 monogenic diseases. We expect that the discovery of additional pathogenic repeat expansions will narrow the diagnostic gap in many diseases. A growing number of TR expansions are being identif...

DeepVelo: deep learning extends RNA velocity to multi-lineage systems with cell-specific kinetics.

Genome biology
Existing RNA velocity estimation methods strongly rely on predefined dynamics and cell-agnostic constant transcriptional kinetic rates, assumptions often violated in complex and heterogeneous single-cell RNA sequencing (scRNA-seq) data. Using a graph...

scNAT: a deep learning method for integrating paired single-cell RNA and T cell receptor sequencing profiles.

Genome biology
Many deep learning-based methods have been proposed to handle complex single-cell data. Deep learning approaches may also prove useful to jointly analyze single-cell RNA sequencing (scRNA-seq) and single-cell T cell receptor sequencing (scTCR-seq) da...

CREaTor: zero-shot cis-regulatory pattern modeling with attention mechanisms.

Genome biology
Linking cis-regulatory sequences to target genes has been a long-standing challenge. In this study, we introduce CREaTor, an attention-based deep neural network designed to model cis-regulatory patterns for genomic elements up to 2 Mb from target gen...

N-of-one differential gene expression without control samples using a deep generative model.

Genome biology
Differential analysis of bulk RNA-seq data often suffers from lack of good controls. Here, we present a generative model that replaces controls, trained solely on healthy tissues. The unsupervised model learns a low-dimensional representation and can...

Evaluation of deep learning-based feature selection for single-cell RNA sequencing data analysis.

Genome biology
BACKGROUND: Feature selection is an essential task in single-cell RNA-seq (scRNA-seq) data analysis and can be critical for gene dimension reduction and downstream analyses, such as gene marker identification and cell type classification. Most popula...

GeneSegNet: a deep learning framework for cell segmentation by integrating gene expression and imaging.

Genome biology
When analyzing data from in situ RNA detection technologies, cell segmentation is an essential step in identifying cell boundaries, assigning RNA reads to cells, and studying the gene expression and morphological features of cells. We developed a dee...

MalariaSED: a deep learning framework to decipher the regulatory contributions of noncoding variants in malaria parasites.

Genome biology
Malaria remains one of the deadliest infectious diseases. Transcriptional regulation effects of noncoding variants in this unusual genome of malaria parasites remain elusive. We developed a sequence-based, ab initio deep learning framework, MalariaSE...