AIMC Topic: Computational Biology

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Graph kernels combined with the neural network on protein classification.

Journal of bioinformatics and computational biology
At present, most of the researches on protein classification are based on graph kernels. The essence of graph kernels is to extract the substructure and use the similarity of substructures as the kernel values. In this paper, we propose a novel graph...

Gene Ontology Causal Activity Modeling (GO-CAM) moves beyond GO annotations to structured descriptions of biological functions and systems.

Nature genetics
To increase the utility of Gene Ontology annotations for interpretation of genome-wide experimental data, we have developed GO-CAM, a structured framework for linking multiple GO annotations into an integrated model of a biological system. We expect ...

PhenoPro: a novel toolkit for assisting in the diagnosis of Mendelian disease.

Bioinformatics (Oxford, England)
MOTIVATION: Whole-exome sequencing (WES) is now being used in clinical practice for the diagnosis of the causal genes of Mendelian diseases. In order to make the diagnosis, however, the clinical phenotypes [e.g. Human Phenotype Ontology (HPO) terms] ...

Enhancing the prediction of disease-gene associations with multimodal deep learning.

Bioinformatics (Oxford, England)
MOTIVATION: Computationally predicting disease genes helps scientists optimize the in-depth experimental validation and accelerates the identification of real disease-associated genes. Modern high-throughput technologies have generated a vast amount ...

Predicting novel microRNA: a comprehensive comparison of machine learning approaches.

Briefings in bioinformatics
MOTIVATION: The importance of microRNAs (miRNAs) is widely recognized in the community nowadays because these short segments of RNA can play several roles in almost all biological processes. The computational prediction of novel miRNAs involves train...

Prediction of regulatory motifs from human Chip-sequencing data using a deep learning framework.

Nucleic acids research
The identification of transcription factor binding sites and cis-regulatory motifs is a frontier whereupon the rules governing protein-DNA binding are being revealed. Here, we developed a new method (DEep Sequence and Shape mOtif or DESSO) for cis-re...

Machine-learning techniques for the prediction of protein-protein interactions.

Journal of biosciences
Protein-protein interactions (PPIs) are important for the study of protein functions and pathways involved in different biological processes, as well as for understanding the cause and progression of diseases. Several high-throughput experimental tec...

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.

Current protocols in human genetics
The Human Phenotype Ontology (HPO) is a standardized set of phenotypic terms that are organized in a hierarchical fashion. It is a widely used resource for capturing human disease phenotypes for computational analysis to support differential diagnost...

TAGOOS: genome-wide supervised learning of non-coding loci associated to complex phenotypes.

Nucleic acids research
Genome-wide association studies (GWAS) associate single nucleotide polymorphisms (SNPs) to complex phenotypes. Most human SNPs fall in non-coding regions and are likely regulatory SNPs, but linkage disequilibrium (LD) blocks make it difficult to dist...

Validation of a Semiautomated Natural Language Processing-Based Procedure for Meta-Analysis of Cancer Susceptibility Gene Penetrance.

JCO clinical cancer informatics
PURPOSE: Quantifying the risk of cancer associated with pathogenic mutations in germline cancer susceptibility genes-that is, penetrance-enables the personalization of preventive management strategies. Conducting a meta-analysis is the best way to ob...