Abstract The Human Phenotype Ontology (HPO) is a widely used resource that
comprehensively organizes and defines the phenotypic features of human disease …

One objective of human genetics is to unveil the variants that contribute to human diseases.
With the rapid development and wide use of next-generation sequencing (NGS), massive …

Background Stratification of patients with post-acute sequelae of SARS-CoV-2 infection
(PASC, or long COVID) would allow precision clinical management strategies. However …

Rare disease diagnostics and disease gene discovery have been revolutionized by whole‐
exome and genome sequencing but identifying the causative variant (s) from the millions in …

Background Diagnosing genetic disorders requires extensive manual curation and
interpretation of candidate variants, a labor-intensive task even for trained geneticists …

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 …

Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

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 …

Purpose This study aimed to provide comprehensive diagnostic and candidate analyses in a
pediatric rare disease cohort through the Genomic Answers for Kids program. Methods …