AI Medical Compendium Journal:
Genome research

Showing 1 to 10 of 24 articles

Integrating genetic variation with deep learning provides context for variants impacting transcription factor binding during embryogenesis.

Genome research
Understanding how genetic variation impacts transcription factor (TF) binding remains a major challenge, limiting our ability to model disease-associated variants. Here, we used a highly controlled system of F crosses with extensive genetic diversity...

Geometric deep learning framework for de novo genome assembly.

Genome research
The critical stage of every de novo genome assembler is identifying paths in assembly graphs that correspond to the reconstructed genomic sequences. The existing algorithmic methods struggle with this, primarily due to repetitive regions causing comp...

Probing the eukaryotic microbes of ruminants with a deep-learning classifier and comprehensive protein databases.

Genome research
Metagenomics, particularly genome-resolved metagenomics, have significantly deepened our understanding of microbes, illuminating their taxonomic and functional diversity and roles in ecology, physiology, and evolution. However, eukaryotic populations...

Artificial intelligence and machine learning in cell-free-DNA-based diagnostics.

Genome research
The discovery of circulating fetal and tumor cell-free DNA (cfDNA) molecules in plasma has opened up tremendous opportunities in noninvasive diagnostics such as the detection of fetal chromosomal aneuploidies and cancers and in posttransplantation mo...

Inferring disease progression stages in single-cell transcriptomics using a weakly supervised deep learning approach.

Genome research
Application of single-cell/nucleus genomic sequencing to patient-derived tissues offers potential solutions to delineate disease mechanisms in humans. However, individual cells in patient-derived tissues are in different pathological stages, and henc...

Modeling gene interactions in polygenic prediction via geometric deep learning.

Genome research
Polygenic risk score (PRS) is a widely used approach for predicting individuals' genetic risk of complex diseases, playing a pivotal role in advancing precision medicine. Traditional PRS methods, predominantly following a linear structure, often fall...

Delineating yeast cleavage and polyadenylation signals using deep learning.

Genome research
3'-end cleavage and polyadenylation is an essential process for eukaryotic mRNA maturation. In yeast species, the polyadenylation signals that recruit the processing machinery are degenerate and remain poorly characterized compared with the well-defi...

Machine learning identifies activation of RUNX/AP-1 as drivers of mesenchymal and fibrotic regulatory programs in gastric cancer.

Genome research
Gastric cancer (GC) is the fifth most common cancer worldwide and is a heterogeneous disease. Among GC subtypes, the mesenchymal phenotype (Mes-like) is more invasive than the epithelial phenotype (Epi-like). Although gene expression of the epithelia...

Cross-species cell-type assignment from single-cell RNA-seq data by a heterogeneous graph neural network.

Genome research
Cross-species comparative analyses of single-cell RNA sequencing (scRNA-seq) data allow us to explore, at single-cell resolution, the origins of the cellular diversity and evolutionary mechanisms that shape cellular form and function. Cell-type assig...

A model-based constrained deep learning clustering approach for spatially resolved single-cell data.

Genome research
Spatially resolved scRNA-seq (sp-scRNA-seq) technologies provide the potential to comprehensively profile gene expression patterns in tissue context. However, the development of computational methods lags behind the advances in these technologies, wh...