A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
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 …
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot … - New England Journal of …, 2021 - Mass Medical Soc
Abstract Background The UK 100,000 Genomes Project is in the process of investigating the
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …
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 …
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations
R Jayadev, MRPT Morais, JM Ellingford… - Science …, 2022 - science.org
Basement membranes (BMs) are ubiquitous extracellular matrices whose composition
remains elusive, limiting our understanding of BM regulation and function. By developing a …
remains elusive, limiting our understanding of BM regulation and function. By developing a …
The human phenotype ontology in 2021
Abstract The Human Phenotype Ontology (HPO, https://hpo. jax. org) was launched in 2008
to provide a comprehensive logical standard to describe and computationally analyze …
to provide a comprehensive logical standard to describe and computationally analyze …
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 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 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 …
<? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world
Abstract The Human Phenotype Ontology (HPO) is a widely used resource that
comprehensively organizes and defines the phenotypic features of human disease …
comprehensively organizes and defines the phenotypic features of human disease …