Federated Analysis for Cancer Variant Interpretation

Presentation/Conference

January 14, 2022 3:00 p.m. - 4:00 p.m. ET

Dr. Melissa Cline will explain how federated analysis helps researchers analyze “Variants of Uncertain Significance,” or rare genetic variants, in BRCA1 and BRCA2 genes. Genetic variation of cancer genes, like BRCA 1 and 2, and their ability to be passed from generation to generation is a pressing concern to cancer researchers because it can influence the development of breast, ovarian, pancreatic, and prostate cancers. Variations in these genes are not well understood because of a lack of data sharing, but federated analysis helps researchers understand the knowledge gaps associated with these variants by making patient data available while protecting patient privacy.

Federated analysis involves sharing containerized analysis software, a process of accessing data without physically sharing it, with research institutions that store patient data. Using this data, Dr. Cline and her team were able to analyze data without directly sharing patient-level data. This allowed her team to create variant-level summaries that are easily shareable but still contain enough information for further analysis. Dr. Cline will share her experience using federated analysis and speak on the future of container technology and its impact on variant data sharing.

This webinar is part of the monthly Containers and Workflows Interest Group (CWIG) webinar series. CWIG brings together data scientists, bioinformaticians, computer scientists, and researchers to learn more about cloud computing and container technologies, workflows, and pipelines that could drive cancer data science.

The webinar series features a variety of presenters from across NIH, industry, and academia. Though cancer research is the focus of the series, unrelated data science and cloud computing topics are still welcome. In the last year, the CWIG webinar speakers have discussed:

NIH cloud programs like the Cancer Genomics Cloud, its fellow NCI Cloud Resources, and NIH STRIDES.
commercial cloud platforms for biomedical data storage and computing.
pipelines and tools for deep learning and various omics analysis.

Melissa Cline, Ph.D.

Dr. Cline is an associate research scientist at the UC Santa Cruz Genomics Institute and the program manager of the BRCA Challenge, a consortium launched by the Global Alliance of Genomics and Health (GA4GH). The BRCA Challenge applies the latest techniques of genetics and genomics to the delivery of health services related to breast cancer while pioneering privacy-preserving data sharing methods. As program manager of the BRCA Challenge, she leads the development of BRCA Exchange, the world’s largest public repository on BRCA variation, and on federated analysis methods for germline variant interpretation.