AIMC Topic: Gene Ontology

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GoVec: Gene Ontology Representation Learning Using Weighted Heterogeneous Graph and Meta-Path.

Journal of computational biology : a journal of computational molecular cell biology
Biomedical knowledge graphs are crucial to support data-intensive applications in the life sciences and health care. These graphs can be extended by generating a heterogeneous graph that contains both ontology terms and biomedical entities. However, ...

Crowdsourcing biocuration: The Community Assessment of Community Annotation with Ontologies (CACAO).

PLoS computational biology
Experimental data about gene functions curated from the primary literature have enormous value for research scientists in understanding biology. Using the Gene Ontology (GO), manual curation by experts has provided an important resource for studying ...

A GO catalogue of human DNA-binding transcription factors.

Biochimica et biophysica acta. Gene regulatory mechanisms
To control gene transcription, DNA-binding transcription factors recognise specific sequence motifs in gene regulatory regions. A complete and reliable GO annotation of all DNA-binding transcription factors is key to investigating the delicate balanc...

Deep GONet: self-explainable deep neural network based on Gene Ontology for phenotype prediction from gene expression data.

BMC bioinformatics
BACKGROUND: With the rapid advancement of genomic sequencing techniques, massive production of gene expression data is becoming possible, which prompts the development of precision medicine. Deep learning is a promising approach for phenotype predict...

Identification of clinical trait-related small RNA biomarkers with weighted gene co-expression network analysis for personalized medicine in endocervical adenocarcinoma.

Aging
Endocervical adenocarcinoma (EAC) is an aggressive type of endocervical cancer. At present, molecular research on EAC mainly focuses on the genome and mRNA transcriptome, the investigation of small RNAs in EAC has not been fully described. Here, we s...

Genetic dissection of complex traits using hierarchical biological knowledge.

PLoS computational biology
Despite the growing constellation of genetic loci linked to common traits, these loci have yet to account for most heritable variation, and most act through poorly understood mechanisms. Recent machine learning (ML) systems have used hierarchical bio...

HOX cluster and their cofactors showed an altered expression pattern in eutopic and ectopic endometriosis tissues.

Reproductive biology and endocrinology : RB&E
Endometriosis is major gynecological disease that affects over 10% of women worldwide and 30%-50% of these women have pelvic pain, abnormal uterine bleeding and infertility. The cause of endometriosis is unknown and there is no definite cure mainly b...

Gene Ontology representation for transcription factor functions.

Biochimica et biophysica acta. Gene regulatory mechanisms
Transcription plays a central role in defining the identity and functionalities of cells, as well as in their responses to changes in the cellular environment. The Gene Ontology (GO) provides a rigorously defined set of concepts that describe the fun...

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

Human genetics
Syndromic retinal diseases (SRDs) are a group of complex inherited systemic disorders, with challenging molecular underpinnings and clinical management. Our main goal is to improve clinical and molecular SRDs diagnosis, by applying a structured pheno...

Safer chemicals using less animals: kick-off of the European ONTOX project.

Toxicology
The 3Rs concept, calling for replacement, reduction and refinement of animal experimentation, is receiving increasing attention around the world, and has found its way to legislation, in particular in the European Union. This is aligned by continuing...