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Multi-Genome Analysis Industry Session Features Don Gregory of GenomeQuest


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GenomeQuest has announced that the session "State-of-the-Art in Whole- and Multi-Genome Analysis: a Discussion and Demonstration of Critical Requirements" at the Next-Generation Sequencing Data Management conference will feature Dr. Don Gregory, head of field application science at GenomeQuest.

The luncheon session starts at 12:40 p.m. on Wednesday, September 29, 2010 at the Rhode Island Convention Center in Providence, RI. The dates for the full conference, run by Cambridge Healthtech Institute, are September 27-29.

In his presentation, Dr. Gregory will outline use cases for multi-genome analysis (MGA), including Family Genetics, Disease/Normal Study, Population Genetics, Pharmacogenomics, and Propensity/Diagnostics.

He will also explore powerful science questions enabled by MGA, including:

• How prevalent is this variation?
• What is the predicted effect of this variation?
• How can I prioritize the observed variations?
• What are the variations common to my triad?
• Is this haplotype generalizable to the overall population?
• Is the variation homozygous/heterozygous?
 
Lastly, he will review and demonstrate critical requirements of MGA solutions, including:

• Scalability to whole-genome reads
• Interactive querying of sequence comparison results
• Incorporation of custom annotated reference genomes
• Comparison against multiple, very large datasets
• Integrated access to aggregated, public datasets
• Consolidation of multiple comparison results into one virtual, queryable database
• Statistical analysis of clinical attributes
• Visualization of MGA variations
• Detection of structural variation
• Web-enabled, high-performance, openness
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