30-3-2015 R2: Biologist friendly web-based genomics analysis & visualization platform Power to the biomedical researcher Jan Koster Department of Oncogenomics Academic Medical Center (AMC) UvA, the Netherlands jankoster@amc.uva.nl The problem • High throughput technologies have become part of the every day biomedical laboratory standards • Working with these data can be challenging and is often done via external collaboration (bioinformatics group) • As a consequence the wetlab researchers are out of touch with their own data, while external data analysts that are not in touch with the experiment are analyzing the data in stead. jankoster@amc.uva.nl SKK 2 1 30-3-2015 What is R2? • R2 genomics analysis and visualization platform – Web based (http://r2.amc.nl) • No installation required • Works everywhere (lab / home / conference room) – (Public) collection datasets • Uniform normalization – Analysis/Visualization tools • Intended users – Biomedical researchers – Wetlab biologists • Queries – Targeted by users interests – Graphical representations jankoster@amc.uva.nl SKK 3 2 30-3-2015 Overview of R2 core jankoster@amc.uva.nl SKK 5 Before we start • Neuroblastoma – Childhood tumor – MYCN oncogene amplified (++ DNA copies) in 20% patients • Bad prognosis on their survival • Amplification is measured in clinical setting and used in risk stratification • Most of the options in R2 will be demonstrated in a neuroblastoma dataset generated within the department of Oncogenomics (NB88), and in addition focus on the MYCN gene or its amplification status jankoster@amc.uva.nl SKK 6 3 30-3-2015 R2 main window jankoster@amc.uva.nl SKK 7 R2 main window jankoster@amc.uva.nl SKK 8 4 30-3-2015 R2 main window jankoster@amc.uva.nl SKK 9 View a gene jankoster@amc.uva.nl SKK 10 5 30-3-2015 View a gene jankoster@amc.uva.nl SKK 11 View a gene jankoster@amc.uva.nl SKK 12 6 30-3-2015 View a gene jankoster@amc.uva.nl SKK 13 TranscriptView jankoster@amc.uva.nl SKK 14 7 30-3-2015 Differential Expression jankoster@amc.uva.nl 15 SKK 15 Differential Expression jankoster@amc.uva.nl SKK 16 8 30-3-2015 Differential Expression jankoster@amc.uva.nl SKK 17 Detailed View jankoster@amc.uva.nl SKK 18 9 30-3-2015 Detailed View jankoster@amc.uva.nl 19 SKK 19 Detailed View jankoster@amc.uva.nl SKK 20 10 30-3-2015 KaplanScan jankoster@amc.uva.nl SKK 21 Differential Expression jankoster@amc.uva.nl SKK 22 11 30-3-2015 2 groups plotter jankoster@amc.uva.nl SKK 23 Differential Expression jankoster@amc.uva.nl SKK 24 12 30-3-2015 Gene Ontology jankoster@amc.uva.nl 25 SKK 25 Differential Expression jankoster@amc.uva.nl SKK 26 13 30-3-2015 Scavenger / gene set analysis jankoster@amc.uva.nl SKK 27 Differential Expression jankoster@amc.uva.nl SKK 28 14 30-3-2015 Also in R2 jankoster@amc.uva.nl SKK 29 Across datasets • One of the Powers of R2 is the large database of diverse (public) datasets and the possibility to combine them for analysis / visualizations Cell Lines Pediatric Cancers Normal Tissues RMS OS NRBL MB GBM Ewing Leukemia jankoster@amc.uva.nl SKK Adult Cancers 30 15 30-3-2015 Integrative Analyses (different data types) + jankoster@amc.uva.nl Hovestadt et al, Nature, 2014 SKK 31 4: Whole genome sequencing data in R2 Neuroblastoma primary tumors (n=87 pairs) Only ~12 aa affecting mutations Chromothripsis frequent in high stage disease Structural variations affecting single genes jankoster@amc.uva.nl Molenaar & Koster et al, Nature, 2012 SKK 32 16 30-3-2015 Whole genome sequencing data in R2 Cohort jankoster@amc.uva.nl SKK Patient Variants 33 R2 usage overview jankoster@amc.uva.nl SKK http://r2.amc.nl 34 17 30-3-2015 Acknowledgements Development/Concepts/Support Jan Koster Richard Volckmann Piet Molenaar Danny Zwijnenburg Jan Molenaar Marcel Kool Linda Valentijn Rogier Versteeg jankoster@amc.uva.nl SKK 35 18
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