AI Medical Compendium Topic:
Genomics

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Integrated multi-omics with machine learning to uncover the intricacies of kidney disease.

Briefings in bioinformatics
The development of omics technologies has driven a profound expansion in the scale of biological data and the increased complexity in internal dimensions, prompting the utilization of machine learning (ML) as a powerful toolkit for extracting knowled...

A comprehensive review of deep learning-based variant calling methods.

Briefings in functional genomics
Genome sequencing data have become increasingly important in the field of personalized medicine and diagnosis. However, accurately detecting genomic variations remains a challenging task. Traditional variation detection methods rely on manual inspect...

TransCell: In Silico Characterization of Genomic Landscape and Cellular Responses by Deep Transfer Learning.

Genomics, proteomics & bioinformatics
Gene expression profiling of new or modified cell lines becomes routine today; however, obtaining comprehensive molecular characterization and cellular responses for a variety of cell lines, including those derived from underrepresented groups, is no...

A Pan-Cancer Patient-Derived Xenograft Histology Image Repository with Genomic and Pathologic Annotations Enables Deep Learning Analysis.

Cancer research
Patient-derived xenografts (PDX) model human intra- and intertumoral heterogeneity in the context of the intact tissue of immunocompromised mice. Histologic imaging via hematoxylin and eosin (H&E) staining is routinely performed on PDX samples, which...

Geno-GCN: A Genome-specific Graph Convolutional Network for Diabetes Prediction.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
Drawing inspiration from convolutional neural networks, graph convolutional networks (GCNs) have been implemented in various applications. Yet, the integration of GCNs into clinical settings, particularly in the context of complex health conditions l...

Multi-task Learning Graph Neural Networks for Cancer Prognosis Prediction with Genomic Data.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
Providing robust prognosis predictions for cancers with limited data samples remains a challenge for precision oncology. In this study, we propose a novel approach that combines multi-task learning (MTL) and graph neural networks (GNNs) to address th...

Classification accuracy of machine learning algorithms for Chinese local cattle breeds using genomic markers.

Yi chuan = Hereditas
Accurate breed classification is required for the conservation and utilization of farm animal genetic resources. Traditional classification methods mainly rely on phenotypic characterization. However, it is difficult to distinguish between the highly...

Identifying new cancer genes based on the integration of annotated gene sets via hypergraph neural networks.

Bioinformatics (Oxford, England)
MOTIVATION: Identifying cancer genes remains a significant challenge in cancer genomics research. Annotated gene sets encode functional associations among multiple genes, and cancer genes have been shown to cluster in hallmark signaling pathways and ...

Interpretable deep learning in single-cell omics.

Bioinformatics (Oxford, England)
MOTIVATION: Single-cell omics technologies have enabled the quantification of molecular profiles in individual cells at an unparalleled resolution. Deep learning, a rapidly evolving sub-field of machine learning, has instilled a significant interest ...

Supervised learning of enhancer-promoter specificity based on genome-wide perturbation studies highlights areas for improvement in learning.

Bioinformatics (Oxford, England)
MOTIVATION: Understanding the rules that govern enhancer-driven transcription remains a central unsolved problem in genomics. Now with multiple massively parallel enhancer perturbation assays published, there are enough data that we can utilize to le...