PO.MD01.02 · 分子诊断与数据

cBioPortal for cancer genomics

海报缩略图:cBioPortal for cancer genomics
编号 4097 展板 2 时间 4/21 09:00–12:00 区域 Section 1 主讲 Ino de Bruijn, MS
分会场 AACR Project GENIE: Genomic Characterization
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作者与单位

Ino de Bruijn1, Tali Mazor2, Gaofei Zhao1, Manda Wilson1, Avery Wang1, Floris Vleugels3, Pim van Nierop3, Henk-Jan van den Ham3, S. Onur Sumer1, Jessica Singh3, Baby A. Satravada1, Oleguer Plantalech3, Angelica Ochoa1, Zain-ul-Abideen Nasir1, Ramyasree Madupuri1, Pieter Lukasse4, Aaron Lisman1, James Lindsay2, Xiang Li1, Bryan Lai1, Ritika Kundra1, Priti Kumari5, Sowmiyaa Kumar3, Tim Kuijpers3, James Ko1, Zeynep Karagöz3, Karthik Kalletla5, Prasanna K Jagannathan6, Jason Hwee1, Guizela Huelsz Prince4, Charles Haynes7, Benjamin Gross1, Zhaoyuan Fu2, Ruslan Forostianov4, Calla Chennault1, Rima AlHamad1, Ugur Dogrusoz8, Allison Heath7, Adam C. Resnick7, Trevor J. Pugh6, Chris Sander9, Jianjiong Gao1, Nikolaus Schultz1, Ethan Cerami2

1Memorial Sloan Kettering Cancer Center, New York City, NY,2Dana-Farber Cancer Institute, Boston, MA,3The Hyve, Utrecht, Netherlands,4SE4BIO, Houten, Netherlands,5Caris Life Sciences, Irving, TX,6University Health Network, Toronto, ON, Canada,7Children's Hospital of Philadelphia, Philadelphia, PA,8Bilkent University, Ankara, Turkey,9Harvard Medical School, Boston, MA

摘要 Abstract

cBioPortal is a widely used platform for interactive visualization and analysis of large-scale multimodal cancer datasets. It provides cohort exploration tools, such as OncoPrint, mutation “lollipop” plots, survival and enrichment analyses, detailed patient-level views, and integrated variant annotations to support interpretation. The public instance of cBioPortal ( https://www.cbioportal.org ) serves >40,000 unique visitors globally each month. It hosts data from >500 studies, all also available through the cBioPortal Datahub. In 2025, we added 38 new studies (~35,000 samples). We also added Tumor Break Load (TBL) scores across PCAWG, CCLE, and all 32 TCGA Pan-Cancer Atlas studies. More than 99 cBioPortal instances are deployed at institutions and companies worldwide. cBioPortal partners with AACR Project GENIE to provide access to the GENIE cohort in a dedicated instance ( https://genie.cbioportal.org ). Users can explore >268,000 clinically sequenced samples from 20 institutions, as well as GENIE Biopharma Collaborative (BPC) cohorts with detailed clinical annotations, including NSCLC (~2,000 samples), colorectal cancer (~1,500), and breast cancer (~1,200), with more to come. Over the past year, cBioPortal progressed along two complementary directions. First, we introduced a chat-based interface for natural-language data exploration, reflecting ongoing efforts to utilize AI, specifically large language models, to augment traditional query and visualization workflows in cBioPortal. Second, we released several core platform enhancements: 1) we improved the performance for large cohorts by switching the backend database from MySQL to ClickHouse, an OLAP (Online Analytical Processing) database; 2) the Plots tab can now visualize variant allele frequencies, connect multiple samples from the same patient, and has more flexible categorical sorting; 3) variant interpretation has been strengthened through integration of AlphaMissense predictions; 4) we released a redesigned About page highlighting the year's accomplishments and future roadmap. It is worth noting that many of these features were developed using AI-assisted technologies, which are increasingly standard practice in software engineering. cBioPortal is open source ( https://github.com/cBioPortal ) and developed collaboratively by groups at Memorial Sloan Kettering Cancer Center, Dana-Farber Cancer Institute, Children's Hospital of Philadelphia, Princess Margaret Cancer Centre, Bilkent University, SE4BIO, and The Hyve. We welcome contributions from the cancer research community.
利益披露 Disclosure
I. de Bruijn, None.. T. Mazor, None.. G. Zhao, None.. M. Wilson, None.. A. Wang, None.. F. Vleugels, None.. P. van Nierop, None.. H. van den Ham, None.. S. Sumer, None.. J. Singh, None.. B. A. Satravada, None.. O. Plantalech, None.. A. Ochoa, None.. Z. Nasir, None.. R. Madupuri, None.. P. Lukasse, None.. A. Lisman, None.. J. Lindsay, None.. X. Li, None.. B. Lai, None.. R. Kundra, None.. P. Kumari, None.. S. Kumar, None.. T. Kuijpers, None.. J. Ko, None.. Z. Karagöz, None.. K. Kalletla, None.. P. Jagannathan, None.. J. Hwee, None.. G. Huelsz Prince, None.. C. Haynes, None.. B. Gross, None.. Z. Fu, None.. R. Forostianov, None.. C. Chennault, None.. R. AlHamad, None.. U. Dogrusoz, None.. A. Heath, None.. A. C. Resnick, None.. T. J. Pugh, None.. C. Sander, None.. J. Gao, None.. N. Schultz, None.. E. Cerami, None.

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