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cBioPortal+ Cancer Visualization & Analytics Application for Research | Translational Science | Clinical Decisions Pichai Raman on behalf of cBioPortal Team Wednesday, May 25, 16 Outline • History& Overview • Data and Application usage • Key Functionality & Features • Security & Authentication • Coming Attractions History & Overview • Original cBioPortal developed at MSKCC for TCGA data and other large-scale cancer profiling efforts • cBioPortal Development now shared across 5 teams : DFCI, MSKCC, Princess Margaret, and CHOP, the Hyve • Lowers barrier to access and visualize complex genomic data for research • cBioPortal+ : CHOP Implementation has a focus on Pediatric cancer data sets History & Overview • Excels at visualization & presentation of multiple data types in an integrated manner Data and Application Usage Type Total MSKCC CHOP Studies 113 91 22 Samples 24026 21334 2692 Data sets are being added on a weekly basis from various sources. Processed through reproducible best practice pipelines. Used Extensively at MSKCC with > 5000 Users a week Data and Application Usage MSKCC currently houses a number of data sources. SU2C CBTTC TARGET EGA/dbGaP Used Extensively at MSKCC with > 5000 Users a week BUT WE ARE ADDING MORE Key Functionality & Features cBioPortal+ has a number of visualizations based on one of three entry points Study View Sample View Gene View Display of frequent / recurrent mutations or lesions within a study Get an overview of all of a patients genetic lesions, connections to Path Reports, clinical trials, drugs, etc.. Look at gene data (mutation / expression etc..) across or within study When creating virtual cohorts of molecular subtypes will be able to quickly identify “potental” drivers Has COSMIC data as well as internal statistics to aid in determining if a mutation is likely causal Correlate genes to other genes within a study or compare to normal tissue expression Can be used to identify targets for immunotherapy Key Functionality & Features cBioPortal+ has a number of visualizations based on one of three entry points Study View Sample View Gene View Display of frequent / recurrent mutations or lesions within a study Get an overview of all of a patients genetic lesions, connections to Path Reports, clinical trials, drugs, etc.. Look at gene data (mutation / expression etc..) across or within study When creating virtual cohorts of molecular subtypes will be able to quickly identify “potental” drivers Has COSMIC data as well as internal statistics to aid in determining if a mutation is likely causal Correlate genes to other genes within a study or compare to normal tissue expression Can be used to identify targets for immunotherapy Mutation Lollipop View Recurrent hotspot identification Height indicates frequency Annotates with COSMIC, cBioPortal Frequencies, and predicts whether mutation event is damaing Tumor vs Normal Immunotherapy Target Discovery Color indicates significance P-value Cutoff Median Tumor Expression P-value, Tumor vs Normal Visualization for RNA-Seq or Microarray data, with ability to look at raw, log, or z-score normalizations and p-value showing differential Other Gene View Visuals PPI Networks Correlation Mutual Exclusivity Key Functionality & Features cBioPortal+ has a number of visualizations based on one of three entry points Study View Sample View Gene View Display of frequent / recurrent mutations or lesions within a study Get an overview of all of a patients genetic lesions, connections to Path Reports, clinical trials, drugs, etc.. Look at gene data (mutation / expression etc..) across or within study When creating virtual cohorts of molecular subtypes will be able to quickly identify “potental” drivers Has COSMIC data as well as internal statistics to aid in determining if a mutation is likely causal Correlate genes to other genes within a study or compare to normal tissue expression Can be used to identify targets for immunotherapy Summary Page Overview Recurrent Mutations Recurrent CNV Descriptive statistics on cohort Selection of Samples Survival Plot Select Genes and all samples with a mutation become a group for Survival Plot Clinical Data Table Tabular view to find Samples Clinical data sortable and searchable Can click on sample to get to sample view Key Functionality & Features cBioPortal+ has a number of visualizations based on one of three entry points Study View Sample View Gene View Display of frequent / recurrent mutations or lesions within a study Get an overview of all of a patients genetic lesions, connections to Path Reports, clinical trials, drugs, etc.. Look at gene data (mutation / expression etc..) across or within study When creating virtual cohorts of molecular subtypes will be able to quickly identify “potental” drivers Has COSMIC data as well as internal statistics to aid in determining if a mutation is likely causal Correlate genes to other genes within a study or compare to normal tissue expression Can be used to identify targets for immunotherapy Patient Summary Page Add to Harvest Cart Mutation & CNA table Clinical Trials and additional tabs Genome View Patient View Harvest Cart Integration Samples Added to the bucket can be accessed via the HARVEST CART tab Clicking submit takes you to CBTTC Harvest application with desired samples loaded Patient View Drugs Tab Gene Target & FDA approval Gene Target also listed Other Patient View Visuals Tissue Images Pathology Report Clinical Data Data Group User Security & Authentication CBTTC Data Set 1 Data Set 2 User Authentication Provided by Google SU2C Public Data Set 3 Data Set 4 Coming Attractions Timeline – Multiple samples per patient Support for PDX Variant Annotation & Prioritization More simplified clinical interface Isoform level information Connection to raw data and processing pipelines 30+ Active Developers from CHOP, MSKCC, DFCI, Princess Margeret, and the Hyve Acknowledgements cBioPortal Consortium • MSKCC • DFCI • Princess Margeret • The Hyve CBTTC Collaborators • Adam Resnick • Alex Felmeister • Tyler Rivera • Jena Lilly • Angela Waanderers • Philip Allman CHOP cBioPortal+ Team • Karthik Kalletla • Anna Lu • Kaitlyn Money CHOP/DBHi Collaborators • Deanne Taylor • Asif Chinwalla • John Maris & SU2C Thank You Visit Us : www.cbioportalplus.org Follow Us : @cBioPortal_Plus