Bioinformatics Shared Resources

Sanford Burnham Prebys Medical Discovery Institute


Paper published 

We have paper published about finding mutations causing CHIME syndrome: Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH. .Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome.Am J Hum Genet. 2012, 90(4):685-8.

Resources for analysis

For analysis of next generation DNA sequence data generated on the AB SOLiD 4 sequencer, there are two 5 node Linux clusters. Next-Gen data analysis tools include BioScope, Avadis NGS, Broad Institute Genome Analysis ToolKit (GATK), SOLiD Alignment Browser (SAB), SOLiD Analysis Tools (SAT), and Partek tools. BioScope software provides a command line and simple web interface for running application-specific sequence analysis tools. These tools allow configurable workflows for resequencing and whole transcriptome analysis and ChIP-seq analysis.  


SBMRI has SOLID and 
on Torrent platforms. Through our collaborators we have access to (and already performed data analysis) Illunima platform.

Workflows and Pipelines

For one of the project we developed and optimized the following data analysis pipeline (numbers shown are approximate and varied from project to project).