Semantic similarity and machine learning with ontologies
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 …
over domain knowledge and they are employed in almost every major biological database …
The human phenotype ontology in 2017
Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …
correlations, including facial recognition tools. However, no unified framework that …
Generalisable long COVID subtypes: findings from the NIH N3C and RECOVER programmes
Background Stratification of patients with post-acute sequelae of SARS-CoV-2 infection
(PASC, or long COVID) would allow precision clinical management strategies. However …
(PASC, or long COVID) would allow precision clinical management strategies. However …
Identifying facial phenotypes of genetic disorders using deep learning
Y Gurovich, Y Hanani, O Bar, G Nadav, N Fleischer… - Nature medicine, 2019 - nature.com
Syndromic genetic conditions, in aggregate, affect 8% of the population. Many syndromes
have recognizable facial features that are highly informative to clinical geneticists,–. Recent …
have recognizable facial features that are highly informative to clinical geneticists,–. Recent …
Prevalence and architecture of de novo mutations in developmental disorders
Nature, 2017 - nature.com
The genomes of individuals with severe, undiagnosed developmental disorders are
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …
Classification, ontology, and precision medicine
Ontologies, Phenotypes, and Big Data Data-organizing methods have been in place for
centuries, but very large data sets have come into being relatively recently. The authors …
centuries, but very large data sets have come into being relatively recently. The authors …
The GA4GH Phenopacket schema defines a computable representation of clinical data
TG is a shareholder of Westlake Omics Inc. TI is a cofounder of Data4Cure, is on the
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
[PDF][PDF] The human phenotype ontology in 2017
Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Abstract The Human Phenotype Ontology (HPO) project, available at http://www. human-
phenotype-ontology. org, provides a structured, comprehensive and well-defined set of …
phenotype-ontology. org, provides a structured, comprehensive and well-defined set of …