AIMC Topic: Phenotype

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Prediction of Human Phenotype Ontology terms by means of hierarchical ensemble methods.

BMC bioinformatics
BACKGROUND: The prediction of human gene-abnormal phenotype associations is a fundamental step toward the discovery of novel genes associated with human disorders, especially when no genes are known to be associated with a specific disease. In this c...

Digging deep into Golgi phenotypic diversity with unsupervised machine learning.

Molecular biology of the cell
The synthesis of glycans and the sorting of proteins are critical functions of the Golgi apparatus and depend on its highly complex and compartmentalized architecture. High-content image analysis coupled to RNA interference screening offers opportuni...

A new synonym-substitution method to enrich the human phenotype ontology.

BMC bioinformatics
BACKGROUND: Named entity recognition is critical for biomedical text mining, where it is not unusual to find entities labeled by a wide range of different terms. Nowadays, ontologies are one of the crucial enabling technologies in bioinformatics, pro...

Recapitulation of Ayurveda constitution types by machine learning of phenotypic traits.

PloS one
In Ayurveda system of medicine individuals are classified into seven constitution types, "Prakriti", for assessing disease susceptibility and drug responsiveness. Prakriti evaluation involves clinical examination including questions about physiologic...

Phenotype Prediction from Metagenomic Data Using Clustering and Assembly with Multiple Instance Learning (CAMIL).

IEEE/ACM transactions on computational biology and bioinformatics
The recent advent of Metagenome Wide Association Studies (MGWAS) provides insight into the role of microbes on human health and disease. However, the studies present several computational challenges. In this paper, we demonstrate a novel, efficient, ...

Single Nucleotide Polymorphism relevance learning with Random Forests for Type 2 diabetes risk prediction.

Artificial intelligence in medicine
OBJECTIVE: The use of artificial intelligence techniques to find out which Single Nucleotide Polymorphisms (SNPs) promote the development of a disease is one of the features of medical research, as such techniques may potentially aid early diagnosis ...

Mimvec: a deep learning approach for analyzing the human phenome.

BMC systems biology
BACKGROUND: The human phenome has been widely used with a variety of genomic data sources in the inference of disease genes. However, most existing methods thus far derive phenotype similarity based on the analysis of biomedical databases by using th...

Investigations on factors influencing HPO-based semantic similarity calculation.

Journal of biomedical semantics
BACKGROUND: Although disease diagnosis has greatly benefited from next generation sequencing technologies, it is still difficult to make the right diagnosis purely based on sequencing technologies for many diseases with complex phenotypes and high ge...

Discovering associations between adverse drug events using pattern structures and ontologies.

Journal of biomedical semantics
BACKGROUND: Patient data, such as electronic health records or adverse event reporting systems, constitute an essential resource for studying Adverse Drug Events (ADEs). We explore an original approach to identify frequently associated ADEs in subgro...