Research graph
References from PhenoSS: phenotype semantic similarity-based approach for rare disease prediction and patient clustering. Local targets link to admitted publications; unresolved targets remain external evidence.
Genome sequencing for diagnosing rare diseases
10.1056/nejmoa2314761 · 2024 · External reference
Exome and genome sequencing for rare genetic disease diagnosis: a scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations
10.1016/j.gim.2023.100948 · 2023 · External reference
The human phenotype ontology in 2024: phenotypes around the world
10.1093/nar/gkad1005 · 2024 · External reference
New diagnostic approaches for undiagnosed rare genetic diseases
10.1146/annurev-genom-083118-015345 · 2020 · External reference
Phenotype-aware prioritisation of rare Mendelian disease variants
10.1016/j.tig.2022.07.002 · 2022 · External reference
Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases
10.1186/s12864-017-3910-4 · 2017 · External reference
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
10.1038/gim.2017.119 · 2018 · External reference
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
10.1186/s13073-022-01026-w · 2022 · External reference
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph
10.1093/nargab/lqab078 · 2021 · External reference
Phenotype-driven strategies for exome prioritization of human Mendelian disease genes
10.1186/s13073-015-0199-2 · 2015 · External reference
Deep phenotyping on electronic health records facilitates genetic diagnosis by clinical exomes
10.1016/j.ajhg.2018.05.010 · 2018 · External reference
VarElect: the phenotype-based variation prioritizer of the GeneCards Suite
10.1186/s12864-016-2722-2 · 2016 · External reference
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases
10.1038/nmeth.3484 · 2015 · External reference
Clinical diagnostics in human genetics with semantic similarity searches in ontologies
10.1016/j.ajhg.2009.09.003 · 2009 · External reference
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families
10.1016/j.ajhg.2014.03.010 · 2014 · External reference
Next-generation diagnostics and disease-gene discovery with the Exomiser
10.1038/nprot.2015.124 · 2015 · External reference
Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis
10.1038/s41467-019-10649-4 · 2019 · External reference
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
10.1038/s41436-018-0381-1 · 2019 · External reference
Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases
10.1093/nargab/lqaa032 · 2020 · External reference
Mayo clinical Text Analysis and Knowledge Extraction System (cTAKES): architecture, component evaluation and applications
10.1136/jamia.2009.001560 · 2010 · External reference
PhenoTips: patient phenotyping software for clinical and research use
10.1002/humu.22347 · 2013 · External reference
Doc2Hpo: a web application for efficient and accurate HPO concept curation
10.1093/nar/gkz386 · 2019 · External reference
Phenotero: annotate as you write
10.1111/cge.13471 · 2019 · External reference
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care
10.1186/s12911-022-01927-1 · 2022 · External reference
PhenoTagger: a hybrid method for phenotype concept recognition using human phenotype ontology
10.1093/bioinformatics/btab019 · 2021 · External reference
PhenoBERT: a combined deep learning method for automated recognition of human phenotype ontology
10.1109/tcbb.2022.3170301 · 2023 · External reference
Enhancing phenotype recognition in clinical notes using large language models: PhenoBCBERT and PhenoGPT
10.1016/j.patter.2023.100887 · 2024 · External reference
Gene ontology: tool for the unification of biology. The Gene Ontology Consortium
10.1038/75556 · 2000 · External reference
Orphanet: a European database for rare diseases
2008 · External reference
Unresolved reference
2002 · External reference
Unresolved reference
2007 · External reference
OARD: Open annotations for rare diseases and their phenotypes based on real-world data
10.1016/j.ajhg.2022.08.002 · 2022 · External reference
10.1016/b978-0-12-809633-8.20401-9
10.1016/b978-0-12-809633-8.20401-9 · 2019 · External reference
Gaussian Copula Regression in R
10.18637/jss.v077.i08 · 2017 · External reference
Mondo: integrating disease terminology across communities
10.1093/genetics/iyaf215 · 2026 · External reference
Unresolved reference
1995 · External reference
Unresolved reference
1998 · External reference
Unresolved reference
1997 · External reference
Unresolved reference
2010 · External reference
10.1016/s0169-7161(03)22018-6
10.1016/s0169-7161(03)22018-6 · External reference
Visualizing data using t-SNE
2008 · External reference
10.21105/joss.00861
10.21105/joss.00861 · 2018 · External reference
10.1002/9781118445112.stat07841
10.1002/9781118445112.stat07841 · 2017 · External reference
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome
10.1038/s41431-023-01368-y · 2023 · External reference
A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery
10.1016/j.xhgg.2024.100371 · 2025 · External reference
TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
10.1016/j.ajhg.2015.11.005 · 2015 · External reference
