From Genotype to Phenotype: Linking Bioinformatics and Medical Informatics Ontologies

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As part of the Manchester Bioinformatics Week there will be a one-day workshop on "From genotype to phenotype: Linking Bioinformatics and Medical Informatics Ontologies". The day-long meeting will be split over Saturday 23rd -- Sunday 24th March 2002 at the Chancellors Conference Centre at the University of Manchester. The meeting co-charis are Robert Stevens and Alan Rector, of the bioinformatics and Medical Informatics Groups at the Department of Computer Science, University of Manchester. The schedule for this and the other Manchester Bioinformatics Week meetings is available and will be extended closer to the meeting dates.


The medical informatics community has had an interest and a wealth of experience in developing and using ontologies, that stretches back over many decades. The younger Bioinformatics community has also indicated a growing interest in the subject area. There is both a common interest and a diversity in these fields, that together, we hope can be of mutual interest and benefit to both communities.

Bioinformatics ontologies have described knowledge of the genotype of organisms: Their molecular biology, function, pathways, molecular structures and general classifications. Medical informatics ontologies have described knowledge about phenotype: Appearance, anatomy, disease, etc. of mainly one organism -- Human, but occaisionally others. the genotype is the genes and genetics, together with associated cellular machinery, that gives rise to those phenotypes. As Bioinformatics gears up to manage, store and analyse data and knowledge from new experimental techniques, such as micro array gene expression, the discipline is becoming more interested in linking knowledge of genotype to the phenotype governed by that gene expression -- or more broadly in linking molecular - genetic, genomic and proteomic - mechanisms to their consequences for physiology and pathology and ultimately clinical medicine - i.e. the health and disease of organs and organisms. Making this linkage is a key step in understanding the mechanisms of known drugs and discovering new ones.

The linking of genotype and phenotype ontologies offers interesting opportunities for collaboration between Medical Informatics and Bioinformatics. Ontologies should be integral in the storage, management and analysis of data in eScience and eMedicine and it is hoped that this meeting can initiate such collaborations.

Workshop Aims

The objectives of this workshop are:


As this is a cross community workshop, a short paragraph describing the participant's work and areas of interest will be collected and circulated to all those present.

We would also like submission of 200 word abstracts or position statements from those who would like to present work and ideas to the audience. Submission of abstracts is electronic. From these submissions a programme will be constructed. The deadline for submissions is 25 January 2002. Some invited speakers will present information -- such as scope and content of each community's ontology and their uses, etc. No official proceedings will be produced from this workshop, though it is hoped that materials wil be made available.

Administritive Information

We wish to limit the number of participants to thirty people. A booking form can be found at the Web site for the whole meeting. This form has costs, deadlines for registration and booking details. The cost of the meeting can include accomodation for the Saturday night, meals plus refreshments during the meeting.

Contact: Robert Stevens, Dept of Computer Science, University of Manchester. +44 (0) 161 275 6251. Email enquiries to: