Semantic similarity and machine learning with ontologies

M Kulmanov, FZ Smaili, X Gao… - Briefings in …, 2021 - academic.oup.com
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 …

Semantic similarity in biomedical ontologies

C Pesquita, D Faria, AO Falcao, P Lord… - PLoS computational …, 2009 - journals.plos.org
In recent years, ontologies have become a mainstream topic in biomedical research. When
biological entities are described using a common schema, such as an ontology, they can be …

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

AJM Dingemans, M Hinne, KMG Truijen, L Goltstein… - Nature Genetics, 2023 - nature.com
Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

GOSemSim: an R package for measuring semantic similarity among GO terms and gene products

G Yu, F Li, Y Qin, X Bo, Y Wu, S Wang - Bioinformatics, 2010 - academic.oup.com
The semantic comparisons of Gene Ontology (GO) annotations provide quantitative ways to
compute similarities between genes and gene groups, and have became important basis for …

[ΒΙΒΛΙΟ][B] Semantic similarity from natural language and ontology analysis

S Harispe, S Ranwez, J Montmain - 2022 - books.google.com
Artificial Intelligence federates numerous scientific fields in the aim of develo** machines
able to assist human operators performing complex treatments---most of which demand high …

Inferring the human microRNA functional similarity and functional network based on microRNA-associated diseases

D Wang, J Wang, M Lu, F Song, Q Cui - Bioinformatics, 2010 - academic.oup.com
Motivation: It is popular to explore meaningful molecular targets and infer new functions of
genes through gene functional similarity measuring and gene functional network …

From single drug targets to synergistic network pharmacology in ischemic stroke

AI Casas, AA Hassan, SJ Larsen… - Proceedings of the …, 2019 - National Acad Sciences
Drug discovery faces an efficacy crisis to which ineffective mainly single-target and symptom-
based rather than mechanistic approaches have contributed. We here explore a mechanism …

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

PN Robinson, S Köhler, S Bauer, D Seelow… - The American Journal of …, 2008 - cell.com
There are many thousands of hereditary diseases in humans, each of which has a specific
combination of phenotypic features, but computational analysis of phenotypic data has been …

Network analysis reveals rare disease signatures across multiple levels of biological organization

P Buphamalai, T Kokotovic, V Nagy… - Nature communications, 2021 - nature.com
Rare genetic diseases are typically caused by a single gene defect. Despite this clear
causal relationship between genotype and phenotype, identifying the pathobiological …

Identification of disease treatment mechanisms through the multiscale interactome

C Ruiz, M Zitnik, J Leskovec - Nature communications, 2021 - nature.com
Most diseases disrupt multiple proteins, and drugs treat such diseases by restoring the
functions of the disrupted proteins. How drugs restore these functions, however, is often …