comprehensive discussion to Phenotypic and Genotypic Matchmaking tools

Question

[Shicheng Guo]

Hi All, anyone can comments on these tools if you used any of them? Thanks.

The Human Phenotype Ontology in 2021
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases
Ontologies, Knowledge Representation, and Machine Learning for Translational Research: Recent Contributions
Challenges ahead for matchmaking
A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature
Doc2Hpo: a web application for efficient and accurate HPO concept curation
CADA: Phenotype-driven gene prioritization based on a case-enriched knowledge graph
Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases
A new method to measure the semantic similarity from query phenotypic abnormalities to diseases based on the human phenotype ontology
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis
PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases
PhenoPro: A novel toolkit for assisting in the diagnosis of Mendelian disease
Constructing Node Embeddings for Human Phenotype Ontology to Assist Phenotypic Similarity Measurement
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm
Subgrouping Rare Disease Patients Leveraging the Human Phenotype Ontology Embeddings
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks