Bioinformatics Research Group
Our work and research interests are focused on two main, overlapping areas:
1. Providing software to overcome issues relating to biological data storage and sharing.
2. Developing solutions to aid accreditation and attribution in data sharing.
Our main projects include:
GWAS Central
GWAS Central (formerly HGVbaseG2P) is an enhanced content graphical-based genome-wide association study (GWAS) resource which combines the best features of a database and a scientific journal.
The G2P Knowledge Centre
This is a cornerstone for the online genotype-to-phenotype (G2P) community. Its functions include:
- centralised access to distributed G2P data, acting as the GEN2PHEN project website
- providing dynamic online workspaces for expert knowledge exchange for the G2P community
- providing G2P news and meeting calendars.
Cafe Variome
Cafe Variome is designed to function as a 'clearinghouse' and exchange portal for gene variant (mutation) data produced by diagnostics laboratories, offering users a portal through which to announce, discover and acquire a comprehensive listing of observed neutral and disease-causing gene variants in patients and unaffected individuals.
TraceSpace
A web-interface that provides graphical display and filtering options enabling researchers to mine extensive catalogues of human genome sequence trace files for structural variation. (No public website.)
Accreditation and attribution in data sharing
The issues surrounding accreditation of researchers who deposit their data in central public databases must be addressed if this practice is to be further encouraged and the origin of a specific dataset is to be correctly determined. These issues are being tackled within the group, from the promotion of Digital Identity technologies to authenticate website membership, through to the implementation of unique researcher identifications for tracking individual’s scientific contributions. The group is actively involved in the Open Researcher and Contributor ID Initiative (ORCID).
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