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 …
[HTML][HTML] Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
[HTML][HTML] Building a knowledge graph to enable precision medicine
Developing personalized diagnostic strategies and targeted treatments requires a deep
understanding of disease biology and the ability to dissect the relationship between …
understanding of disease biology and the ability to dissect the relationship between …
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 …
correlations, including facial recognition tools. However, no unified framework that …
Classification, ontology, and precision medicine
MA Haendel, CG Chute… - New England Journal of …, 2018 - Mass Medical Soc
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 Matchmaker Exchange: a platform for rare disease gene discovery
AA Philippakis, DR Azzariti, S Beltran… - Human …, 2015 - Wiley Online Library
There are few better examples of the need for data sharing than in the rare disease
community, where patients, physicians, and researchers must search for “the needle in a …
community, where patients, physicians, and researchers must search for “the needle in a …
[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 …
Next-generation diagnostics and disease-gene discovery with the Exomiser
Exomiser is an application that prioritizes genes and variants in next-generation sequencing
(NGS) projects for novel disease-gene discovery or differential diagnostics of Mendelian …
(NGS) projects for novel disease-gene discovery or differential diagnostics of Mendelian …
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 …
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings
LK Willig, JE Petrikin, LD Smith… - The Lancet …, 2015 - thelancet.com
Background Genetic disorders and congenital anomalies are the leading causes of infant
mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units …
mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units …