We'll be heading to American Society for Human Genetics 2014 conference in San Diego, October 18-22. Please check out our work in the following sessions:
- 170. PhenomeCentral: An integrated portal for sharing patient phenotype and genotype data for rare genetic disorders.
Mon Oct 20 5:30p. Concurrent Platform Session C: From Bytes To Phenotypes. Hall B1, Ground Level, Convention Center
Michael Brudno will present the new data sharing portal PhenomeCentral, which facilitates the identification of phenotypically similar patients, utilizing the Human Phenotype Ontology (HPO) for linking patient phenotypes. Monarch contributes the API for the Annotation Sufficiency metric, actively develops on the HPO, and has provided user testing and documentation. Cases from our work with the NIH Intramural Undiagnosed Disease Program (UDP) have been deposited into PhenomeCentral.
- 1499T. Standardized phenotyping enables rapid and accurate prioritization of disease-associated and previously unreported sequence variants. Tue Oct 21 2-3pm.
William Bone will present our work with the NIH UDP, particularly about the use of Exomiser 2.0 as a rapid and effective method to screen for variants. The updated algorithm uses a combination of disease-gene and model organism phenotypes, together with protein-protein associations for candidate prioritization.
- 1643T. Phenotype terminologies in use for genotype-phenotype databases: A common core for standardisation and interoperability. Tue Oct 21 2-3pm.
Peter Robinson will present the efforts to develop a core terminology of phenotypes that is interoperable with all terminologies in current use including PhenoDB, London Dysmorphology Database, Orphanet, Human Phenotype Ontology, Elements of Morphology, ICD10, UMLS, SNOMED CT, MeSH, and MedDRA.