The human phenotype ontology in 2017
Deep phenotyping 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 …
Genomic medicine for undiagnosed diseases
AL Wise, TA Manolio, GA Mensah, JF Peterson… - The Lancet, 2019 - thelancet.com
One of the primary goals of genomic medicine is to improve diagnosis through identification
of genomic conditions, which could improve clinical management, prevent complications …
of genomic conditions, which could improve clinical management, prevent complications …
Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management
Importance While congenital malformations and genetic diseases are a leading cause of
early infant death, to our knowledge, the contribution of single-gene disorders in this group …
early infant death, to our knowledge, the contribution of single-gene disorders in this group …
[HTML][HTML] Clinical exome sequencing: results from 2819 samples reflecting 1000 families
D Trujillano, AM Bertoli-Avella… - European Journal of …, 2017 - nature.com
We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples
from 54 countries with a wide phenotypic spectrum. Clinical information given by the …
from 54 countries with a wide phenotypic spectrum. Clinical information given by the …
[PDF][PDF] The human phenotype ontology in 2017
Deep phenotyping 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 Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
The correlation of phenotypic outcomes with genetic variation and environmental factors is a
core pursuit in biology and biomedicine. Numerous challenges impede our progress: patient …
core pursuit in biology and biomedicine. Numerous challenges impede our progress: patient …
[HTML][HTML] The environment ontology in 2016: bridging domains with increased scope, semantic density, and interoperation
Abstract Background The Environment Ontology (ENVO; http://www. environmentontology.
org/), first described in 2013, is a resource and research target for the semantically …
org/), first described in 2013, is a resource and research target for the semantically …
[HTML][HTML] The human phenotype ontology: semantic unification of common and rare disease
The Human Phenotype Ontology (HPO) is widely used in the rare disease community for
differential diagnostics, phenotype-driven analysis of next-generation sequence-variation …
differential diagnostics, phenotype-driven analysis of next-generation sequence-variation …
[HTML][HTML] Enhancing phenotype recognition in clinical notes using large language models: PhenoBCBERT and PhenoGPT
To enhance phenotype recognition in clinical notes of genetic diseases, we developed two
models—PhenoBCBERT and PhenoGPT—for expanding the vocabularies of Human …
models—PhenoBCBERT and PhenoGPT—for expanding the vocabularies of Human …
[HTML][HTML] Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
Y Takahashi, H Date, H Oi, T Adachi… - Journal of Human …, 2022 - nature.com
The identification of causative genetic variants for hereditary diseases has revolutionized
clinical medicine and an extensive collaborative framework with international cooperation …
clinical medicine and an extensive collaborative framework with international cooperation …