HVP Phenotype Session
Audience discussion
Five slides with suggested/potential topics
Phenotype Databases
What can be achieved by databases with good
phenotype data?
What kind of phenotype data needs to go in?
Role of specialised vs. „universal“ database?
Advantages of phenotype-centric, (single-) gene
centric, or exome/genome-centric databases?
Standards/Terminologies/Ontologies
Disease nosology, phenotypic features,...,?
How many ontologies are optimal?
How to ensure interoperability between ontologies?
How to relate specialist ontologies to hospital IT
systems such as SNOMED-CT?
Should we map legacy data?
Who does the biocuration? Who pays for it?
Quality control of Phenotype Data
How to ensure good quality data goes in?
How to motivate physicians and others to enter
high-quality and complete phenotype data?
How to check for quality and completeness of
phenotype data in databases?
Technical Standards for Phenotype Data
How to ensure interoperability of databases?
Role for Semantic Web technologies?
Other technologies for standardised data exchange?
What needs to be done to connect hospitals and
research labs to the rest of the network to transmit data?
Who manages researcher identities for access control?
Data Access & Administration Who is allowed access to phenotype data (which in combination with genotypes raises issues of identifiability)?
The MD? The patient? All registered reseachers? The world?
Where should the data „live“? Centralized vs. Federated databases?
Sustainability?
Ethics of Phenotype Databasing
Do we need special consent for Web phenotype
databases?
What about vulnerable persons (e.g., ID)?
Optimal makeup of ethics oversight committees?
Do we need to rethink our notions of Privacy in
this Facebook-era?
Phenotype Workshop at the ASHG
Getting Ready for The Human Phenome Project
ASHG Satellite, San Francisco
Tuesday 6th November 2012,
8.30 AM to 3.45 PM
Open for abstracts
