Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes
- 5 May 2020
- journal article
- research article
- Published by Elsevier BV in Genetics in Medicine
- Vol. 22 (8), 1391-1400
- https://doi.org/10.1038/s41436-020-0812-7
Abstract
No abstract availableFunding Information
- Canadian Institutes for Health Research
This publication has 16 references indexed in Scilit:
- Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet databaseEuropean Journal of Human Genetics, 2019
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resourcesNucleic Acids Research, 2018
- A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian DiseaseAmerican Journal of Human Genetics, 2016
- Next-generation diagnostics and disease-gene discovery with the ExomiserNature Protocols, 2015
- Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function DataPLOS ONE, 2015
- PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic DiseasesHuman Mutation, 2015
- Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontologyBMC Bioinformatics, 2014
- PhenoTips: Patient Phenotyping Software for Clinical and Research UseHuman Mutation, 2013
- Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end usersHuman Mutation, 2012
- Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disordersNucleic Acids Research, 2004