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圣裘德生存者门户:从儿科癌症幸存者那里分享和分析大型临床和基因组数据集。

St. Jude Survivorship Portal: Sharing and Analyzing Large Clinical and Genomic Datasets from Pediatric Cancer Survivors.

机构信息

Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee.

Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee.

出版信息

Cancer Discov. 2024 Aug 2;14(8):1403-1417. doi: 10.1158/2159-8290.CD-23-1441.

DOI:10.1158/2159-8290.CD-23-1441
PMID:38593228
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11294819/
Abstract

Childhood cancer survivorship studies generate comprehensive datasets comprising demographic, diagnosis, treatment, outcome, and genomic data from survivors. To broadly share this data, we created the St. Jude Survivorship Portal (https://survivorship.stjude.cloud), the first data portal for sharing, analyzing, and visualizing pediatric cancer survivorship data. More than 1,600 phenotypic variables and 400 million genetic variants from more than 7,700 childhood cancer survivors can be explored on this free, open-access portal. Summary statistics of variables are computed on-the-fly and visualized through interactive and customizable charts. Survivor cohorts can be customized and/or divided into groups for comparative analysis. Users can also seamlessly perform cumulative incidence and regression analyses on the stored survivorship data. Using the portal, we explored the ototoxic effects of platinum-based chemotherapy, uncovered a novel association between mental health, age, and limb amputation, and discovered a novel haplotype in MAGI3 strongly associated with cardiomyopathy specifically in survivors of African ancestry. Significance: The St. Jude Survivorship Portal is the first data portal designed to share and explore clinical and genetic data from childhood cancer survivors. The portal provides both open- and controlled-access features and will fulfill a wide range of data sharing needs of the survivorship research community and beyond. See co-corresponding author Xin Zhou discuss this research article, published simultaneously at the AACR Annual Meeting 2024: https://vimeo.com/932617204/7d99fa4958.

摘要

儿童癌症生存者研究生成了综合数据集,包括幸存者的人口统计学、诊断、治疗、结果和基因组数据。为了广泛分享这些数据,我们创建了圣裘德生存者门户(https://survivorship.stjude.cloud),这是第一个用于共享、分析和可视化儿科癌症生存者数据的数据门户。在这个免费的开放访问门户上,可以探索超过 7700 名儿童癌症幸存者的 1600 多个表型变量和 4 亿个遗传变异。变量的汇总统计数据是实时计算的,并通过交互式和可定制的图表进行可视化。幸存者队列可以自定义和/或分为组进行比较分析。用户还可以在存储的生存数据上无缝地执行累积发生率和回归分析。使用该门户,我们探讨了基于铂的化疗的耳毒性影响,发现了心理健康、年龄和肢体截肢之间的新关联,并在 MAGI3 中发现了一个与心肌病强烈相关的新单倍型,特别是在非洲裔幸存者中。意义:圣裘德生存者门户是第一个旨在共享和探索儿童癌症幸存者临床和遗传数据的数据门户。该门户提供开放和受控访问功能,将满足生存研究社区及其他领域的广泛数据共享需求。请参阅共同对应作者 Xin Zhou 在同时发表于 2024 年美国癌症研究协会年会上的讨论这篇研究文章的视频:https://vimeo.com/932617204/7d99fa4958。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2e1/11294819/a20eb236bb67/cd-23-1441fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2e1/11294819/02e460464848/cd-23-1441fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2e1/11294819/2516dc6963e9/cd-23-1441fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2e1/11294819/f1f7ac9e3aeb/cd-23-1441fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2e1/11294819/f24352cd99af/cd-23-1441fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2e1/11294819/a20eb236bb67/cd-23-1441fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2e1/11294819/02e460464848/cd-23-1441fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2e1/11294819/2516dc6963e9/cd-23-1441fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2e1/11294819/f1f7ac9e3aeb/cd-23-1441fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2e1/11294819/f24352cd99af/cd-23-1441fig4.jpg
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