AI Medical Compendium Topic:
Genomics

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Deep learning based Nucleus Classification in pancreas histological images.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
Tumor specimens contain a variety of healthy cells as well as cancerous cells, and this heterogeneity underlies resistance to various cancer therapies. But this problem has not been thoroughly investigated until recently. Meanwhile, technological bre...

HIPred: an integrative approach to predicting haploinsufficient genes.

Bioinformatics (Oxford, England)
MOTIVATION: A major cause of autosomal dominant disease is haploinsufficiency, whereby a single copy of a gene is not sufficient to maintain the normal function of the gene. A large proportion of existing methods for predicting haploinsufficiency inc...

The cancer precision medicine knowledge base for structured clinical-grade mutations and interpretations.

Journal of the American Medical Informatics Association : JAMIA
OBJECTIVE: This paper describes the Precision Medicine Knowledge Base (PMKB; https://pmkb.weill.cornell.edu ), an interactive online application for collaborative editing, maintenance, and sharing of structured clinical-grade cancer mutation interpre...

Gene essentiality prediction based on fractal features and machine learning.

Molecular bioSystems
Essential genes are required for the viability of an organism. Accurate and rapid identification of new essential genes is of substantial theoretical interest to synthetic biology and has practical applications in biomedicine. Fractals provide facili...

Optimizing ChIP-seq peak detectors using visual labels and supervised machine learning.

Bioinformatics (Oxford, England)
MOTIVATION: Many peak detection algorithms have been proposed for ChIP-seq data analysis, but it is not obvious which algorithm and what parameters are optimal for any given dataset. In contrast, regions with and without obvious peaks can be easily l...

A Sparse Learning Framework for Joint Effect Analysis of Copy Number Variants.

IEEE/ACM transactions on computational biology and bioinformatics
Copy number variants (CNVs), including large deletions and duplications, represent an unbalanced change of DNA segments. Abundant in human genomes, CNVs contribute to a large proportion of human genetic diversity, with impact on many human phenotypes...

Machine Learning Techniques in Exploring MicroRNA Gene Discovery, Targets, and Functions.

Methods in molecular biology (Clifton, N.J.)
In recent years, the role of miRNAs in post-transcriptional gene regulation has provided new insights into the understanding of several types of cancers and neurological disorders. Although miRNA research has gathered great momentum since its discove...

Logical Reasoning (Inferencing) on MicroRNA Data.

Methods in molecular biology (Clifton, N.J.)
Logical reasoning played an important role in artificial intelligence. Applying logical reasoning on microRNA data brings intelligence into data analysis. Here, we provide basic introduction about logic (especially propositional logic) and automated ...