The interrelation and complementary nature of multi-omics data can provide valuable insights into the intricate molecular mechanisms underlying diseases. However, challenges such as limited sample size, high data dimensionality and differences in omi...
SUMMARY: Deep neural networks (DNNs) have been widely applied to predict the molecular functions of the non-coding genome. DNNs are data hungry and thus require many training examples to fit data well. However, functional genomics experiments typical...
JPMA. The Journal of the Pakistan Medical Association
Mar 1, 2024
Brain tumour diagnosis involves assessing various radiological and histopathological parameters. Imaging modalities are an excellent resource for disease monitoring. However, manual inspection of imaging is laborious, and performance varies depending...
Enhancers, noncoding DNA fragments, play a pivotal role in gene regulation, facilitating gene transcription. Identifying enhancers is crucial for understanding genomic regulatory mechanisms, pinpointing key elements and investigating networks governi...
Single-cell RNA sequencing (scRNA-seq) has emerged as a powerful tool to gain biological insights at the cellular level. However, due to technical limitations of the existing sequencing technologies, low gene expression values are often omitted, lead...
Target enrichment sequencing techniques are gaining widespread use in the field of genomics, prized for their economic efficiency and swift processing times. However, their success depends on the performance of probes and the evenness of sequencing d...
Journal of the American Medical Informatics Association : JAMIA
Jan 18, 2024
OBJECTIVE: Given the importance AI in genomics and its potential impact on human health, the American Medical Informatics Association-Genomics and Translational Biomedical Informatics (GenTBI) Workgroup developed this assessment of factors that can f...
Frontiers in bioscience (Landmark edition)
Jan 12, 2024
Advances in gene sequencing technology and decreasing costs have resulted in a proliferation of genomic data as an integral component of big data. The availability of vast amounts of genomic data and more sophisticated genomic analysis techniques has...
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similar...
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