Publications
Informatics
Bioinformatics Training for Geneticists Professionals - Sept 2009
- Introduction to Bioinformatics
- Cytogenetic Databases and Tools
- Genomes with Ensembl
- UV Guidelines
- Array CGH
- Orphanet
Bioinformatics Training for Clinical Geneticists - Oct 2009
- Normal variation in the human genome
- Pathogenic Variation in the human genome
- Tools for Clinicians
- Molecular databases and tools - practical experience
- ECARUCA
- ENSEMBL - Browsing genes and genomes
- Orphanet - Introduction
Diagnostic Mutation DataBase
- DMuDB User Manual
- DMuDB Sample Spreadsheet
- DMuDB Workshop Report (February 2007)
- DMuDB: a shared mutation repository for UK diagnostic labs - Helsinki 2006
- DMuDB Steering Committee Report
- Frequently Asked Questions
- Screencast - Anonymising Patient IDs
- Screencast - Browse for Gene Data
- Screencast - Filters to View Specific Referrals
- Screencast - Submit Variants to DMuDB
- Screencast - View Data in Universal Browser
Consultancy Reports from IT Perspectives
- Output Based Specification
- A review of Information Systems in English Regional Genetic Services
- Genetic Services and the National Programme for IT (NPfIT) and Appendix
- Scope and Functionality of a Tracking and Tracing Service