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Transcript
An update on the ALS Online Genetics Database, ALSoD. Olubunmi Abel ENCALS meeting, Italy 5th December 2013 ALS Online genetics Database (ALSoD) – Originally designed in 1999 for sharing of clinical and genetic data – Publicly available online – Useful for researchers – Links to other genetic information sources Older versions • ALSOD - Amyotrophic Lateral Sclerosis SOD1 • www.alsod.org • 4 genes -SOD1,NEFH,ALS2, VAPB Newer Versions (since 2008) • ALSoD - Amyotrophic Lateral Sclerosis Online genetics Database • 113 ALS-related genes • http://alsod.iop.kcl.ac.uk • Graphical representations • Analysis, collation & integration Overview Brief information of gene Graphs and Statistics Links to external information Animal model publications Key publications on gene Detailed Analysis • Gender Ratio • Family Ratio • Site of Onset Ratio • Population Interactions • GeneMANIA • Select genes • Graphical display Comparing genes • Compares any two genes • Statistical summary • Countries where genes are found Pathogenicity Prediction • Bioinformatics tools: PANTHER, SIFT, PolyPhen • Replicated studies Gene Credibility • Criteria selection • Rank genes according to criteria Displaying genome-wide data Mapped gene variants to genomic coordinates For example SOD1 mutation : A4V Population frequency • 1000 genome, EVS database Animal Models Mobile platform • Summarized version • Mobile website and app • Switchable views • Increased access to data • Encourages collaboration Popularity & Frequency of use Future • Collaboration with PatientsLikeMe • Advanced Integration with external databases • Mobile applications on a wider platform Acknowledgements Previous website designers • Richard Wroe • Ian Gowrie Original idea for ALSoD • Aleks Radunovic • Nigel Leigh Current Co-ordinators • Ammar Al-Chalabi • John Powell • Peter Andersen • Funding – Generous long-term funding from ALSA and MNDA – Additional funding from MNDA Iceland, ALS Society of Canada, ALS Therapy Alliance • Adopted by World Federation of Neurology and European Network for the Cure of ALS
