Best practices for the interpretation and reporting of clinical whole genome sequencing
CA Austin-Tse, V Jobanputra, DL Perry, D Bick… - NPJ genomic …, 2022 - nature.com
Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …
with rare genetic disorders. However, standards addressing the definition and deployment …
Personalized medicine and the power of electronic health records
NS Abul-Husn, EE Kenny - Cell, 2019 - cell.com
Personalized medicine has largely been enabled by the integration of genomic and other
data with electronic health records (EHRs) in the United States and elsewhere. Increased …
data with electronic health records (EHRs) in the United States and elsewhere. Increased …
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Abstract The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers …
abnormalities associated with 7000+ diseases—is used by thousands of researchers …
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 …
[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 …
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
By informing timely targeted treatments, rapid whole-genome sequencing can improve the
outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and …
outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and …
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
Purpose Variants of uncertain significance (VUS) are a common result of diagnostic genetic
testing and can be difficult to manage with potential misinterpretation and downstream costs …
testing and can be difficult to manage with potential misinterpretation and downstream costs …
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 …
High-throughput phenotyping with electronic medical record data using a common semi-supervised approach (PheCAP)
Phenotypes are the foundation for clinical and genetic studies of disease risk and outcomes.
The growth of biobanks linked to electronic medical record (EMR) data has both facilitated …
The growth of biobanks linked to electronic medical record (EMR) data has both facilitated …
[HTML][HTML] Unsupervised machine learning for the discovery of latent disease clusters and patient subgroups using electronic health records
Abstract Machine learning has become ubiquitous and a key technology on mining
electronic health records (EHRs) for facilitating clinical research and practice. Unsupervised …
electronic health records (EHRs) for facilitating clinical research and practice. Unsupervised …