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 …

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 …

Abstract The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers …

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 enhance phenotype recognition in clinical notes of genetic diseases, we developed two
models—PhenoBCBERT and PhenoGPT—for expanding the vocabularies of Human …

Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

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 …

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 …

The transition from analog to digital technologies in clinical laboratory genomics is ushering
in an era of “big data” in ways that will exceed human capacity to rapidly and reproducibly …

Abstract Machine learning has become ubiquitous and a key technology on mining
electronic health records (EHRs) for facilitating clinical research and practice. Unsupervised …