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Omics Data Platform Investigator Portal

Time Period: May 2022  – Present


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Omics Data Platform Investigator Portal

Next Generation Sequencing (NGS) is a technology used to identify DNA variations in the human population. It is used by clinicians and researchers to find potential causes for inherited disorders or cancer mutations [1]. NGS data is large and expensive to store, so it is becoming increasingly common for hospitals to house NGS data in cloud-based solutions [2].


Currently, accessing large sets of NGS data from the cloud requires specialized training. Many clinicians and researchers rely on bioinformaticians to retrieve data and initial insights. Researchers and healthcare providers need user-friendly tools that enable them to select, retrieve, and display the specific data that answers their research or clinical question. How to best empower users to ask specific questions of the data and to explore and interpret the information that is retrieved is an important UI/UX challenge.


In this project, we are developing an Investigator Portal for the genomic data stored on the Google Cloud-based Mayo Clinic Omics Data Platform (ODP). This portal allows users to search and filter their data (e.g., formulate queries) to look across and access the vast amount of knowledge in these genomic datasets.


With our experience in building clinical user interfaces, we  designed, developed, and released a web applicationMayo researchers query their genomic datasets. The application fits seamlessly into Mayo’s current clinical and research ecosystems, since we applied the UI/UX style guide our group previously developed for Mayo Clinic..  For the next phases of this project, our goal is to foster new collaborations between researchers across Mayo Clinic. Our designs will allow researchers to run queries across multiple datasets at once, providing a way for researchers and clinicians to share their data.


Drs. Sekulic, Olson, and Klee from the Mayo Clinic provide expert guidance and feature prioritization for the tool’s interface capabilities and design. The Mayo development team creates and tests the primary backend services which retrieve and display the cloud genomics data requested by user queries.

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The user can monitor the status of all of their queries while they wait for the results to be retrieved from the cloud.

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Lower right: The ODP Investigator Portal enables users to sort and filter data (e.g., build a query)  from cloud-based genomics datasets.


Lower left: Users can also integrate annotation fields from several different catalog databases.


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When the results are ready, users can explore the variants discovered by their query (rows) with the different annotations that they requested (columns).


VA Participants

Charles Blatti, Product Manager

Jessica Saw, Clinical Content Specialist

Lisa Gatzke, UI/UX Lead Designer

Fangyu Zhou, UI/UX Designer

Chad Olson, Frontend Development

Matt Berry, Application Development

Sara Lambert, Application Development

Jonathan Kim, Application Development

Our Collaborators

Erik Klee, Director of Bioinformatics, Center for Individualized Medicine, Mayo Rochester [profile], Product Sponsor

Aleksandar Sekulic, Associate Director, Center for Individualized Medicine, Mayo Phoenix [profile], Product Owner

Rory Olson, Mayo Rochester, Advisory Panel

Mark Heggestad, Mayo Jacksonville, Project Manager

Eric Winter, Mayo Rochester, IT Tech Specialist

Corey Carlson, Mayo Rochester, Programmer

Laura Lo, Mayo Rochester, Business Analyst

Kiran McCombs, Mayo Rochester, Quality Assurance

Megan Williams, Mayo Rochester, IT Manager

Related References

[1] Koboldt, D. C. 2020. Best practices for variant calling in clinical sequencing. Genome Medicine.

[2] Krumm, N. and Hoffman, N., 2020. Practical estimation of cloud storage costs for clinical genomic data. Practical Laboratory Medicine.


Project Contact:

Charles Blatti
Research Scientist

Funding agency:

Mayo Clinic Center for Individualized Medicine

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