PO.BCS01.16 · 生物信息与计算

Sylvester Data Portal: Population-level characterization of a diverse clinicogenomic cohort

海报缩略图:Sylvester Data Portal: Population-level characterization of a diverse clinicogenomic cohort
编号 2731 展板 24 时间 4/20 02:00–05:00 区域 Section 2 主讲 Oliver Mazariegos, MS
分会场 Integration of Clinical and Research Data
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作者与单位

Oliver Mazariegos1, Jeronimo Pissinis1, Pearl Seo2, Marcin Pilarczyk1, Lukas Rupprecht1, Caty Chung1, Franklin Sotolongo3, Marcin Blicharz1, Piotr Smol1, Michal Pyrkosz1, Mateusz Jura1, Vasileios Stathias3, Stephan Schürer1

1Univ. of Miami Sylvester Comprehensive Cancer Ctr., Miami, FL,2University of Miami, Miami, FL,3University of Miami Miller School of Medicine, Miami, FL

摘要 Abstract

The Sylvester Data Portal (SDP), developed at the University of Miami (UM) Sylvester Comprehensive Cancer Center, is an advanced cloud-based multi-omics platform that streamlines the management of real-world and research data. SDP provides an integrated framework for managing and harmonizing the center's clinicogenomic data generated by major genomic profiling vendors, including Caris Life Sciences, Foundation Medicine, NeoGenomics and Guardant Health. SDP now supports population-scale analyses that enable comparative studies across Sylvester's catchment population. To facilitate secure and role-based access to clinical and genomic data, SDP provides three structured interfaces: (1) The Clinical Dashboard, which summarizes aggregated patient demographics and data availability; (2) the Clinical Browser, which supports query and visualization of de-identified subject-level data; and (3) Clinical Collections, which integrate protected health information with next-generation sequencing data under IRB and Data broker approvals. This integrated infrastructure enables standardized and reproducible access to a large, diverse and growing clinicogenomic dataset, supporting translational research and promoting equitable representation in precision oncology. Using this framework, the demographic and molecular profiles of the Sylvester clinicogenomic cohort were systematically evaluated and compared with those of the Cancer Genome Atlas (TCGA). The Sylvester cohort includes over 30,000 samples, almost three times the number of samples reported in TCGA (11,387), and is derived primarily from targeted panel sequencing rather than whole exome sequencing. Notably, close to half of the cases, 45.9%, within this cohort are from patients that self-identify as Hispanic, vs. 3.52% in TCGA, reflecting the distinctive population from the cancer center and contributing to improved genomic representation of an underrepresented group in cancer genomics. Mutational prevalence was also compared, in particular TP53 is more often mutated in the TCGA cohort, 36.99% vs. 26.72%, whereas KRAS mutations are more prevalent in the SDP cohort 7.5% vs. 9.81%.
利益披露 Disclosure
O. Mazariegos, None.. P. Seo, None.. F. Sotolongo, None.

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