AIMC Topic: Machine Learning

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Revisiting genome-wide association studies from statistical modelling to machine learning.

Briefings in bioinformatics
Over the last decade, genome-wide association studies (GWAS) have discovered thousands of genetic variants underlying complex human diseases and agriculturally important traits. These findings have been utilized to dissect the biological basis of dis...

Prediction of driver variants in the cancer genome via machine learning methodologies.

Briefings in bioinformatics
Sequencing technologies have led to the identification of many variants in the human genome which could act as disease-drivers. As a consequence, a variety of bioinformatics tools have been proposed for predicting which variants may drive disease, an...

Machine learning application identifies novel gene signatures from transcriptomic data of spontaneous canine hemangiosarcoma.

Briefings in bioinformatics
Angiosarcomas are soft-tissue sarcomas that form malignant vascular tissues. Angiosarcomas are very rare, and due to their aggressive behavior and high metastatic propensity, they have poor clinical outcomes. Hemangiosarcomas commonly occur in domest...

ABCModeller: an automatic data mining tool based on a consistent voting method with a user-friendly graphical interface.

Briefings in bioinformatics
In order to extract useful information from a huge amount of biological data nowadays, simple and convenient tools are urgently needed for data analysis and modeling. In this paper, an automatic data mining tool, termed as ABCModeller (Automatic Bina...

Semantic similarity and machine learning with ontologies.

Briefings in bioinformatics
Ontologies have long been employed in the life sciences to formally represent and reason over domain knowledge and they are employed in almost every major biological database. Recently, ontologies are increasingly being used to provide background kno...

A comprehensive comparison of residue-level methylation levels with the regression-based gene-level methylation estimations by ReGear.

Briefings in bioinformatics
MOTIVATION: DNA methylation is a biological process impacting the gene functions without changing the underlying DNA sequence. The DNA methylation machinery usually attaches methyl groups to some specific cytosine residues, which modify the chromatin...

SICaRiO: short indel call filtering with boosting.

Briefings in bioinformatics
Despite impressive improvement in the next-generation sequencing technology, reliable detection of indels is still a difficult endeavour. Recognition of true indels is of prime importance in many applications, such as personalized health care, diseas...

Electronic phenotyping of health outcomes of interest using a linked claims-electronic health record database: Findings from a machine learning pilot project.

Journal of the American Medical Informatics Association : JAMIA
OBJECTIVE: Claims-based algorithms are used in the Food and Drug Administration Sentinel Active Risk Identification and Analysis System to identify occurrences of health outcomes of interest (HOIs) for medical product safety assessment. This project ...