Rare disease genomics with seqr in Terra
Lynn Pais
July 15, 2024
Identifying a genetic diagnosis for individuals with rare monogenic diseases often requires sifting through mountains of genomic data…
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Identifying a genetic diagnosis for individuals with rare monogenic diseases often requires sifting through mountains of genomic data…
For researchers trying to understand and treat cancer, searching for useful datasets consumes valuable time. Even after accessing a dataset, researchers must figure out how—and where—to analyze it. After all, it is no mean task to wrangle petabytes of data.
Erdal Cosgun-co author of this blog- is the Lead Data Scientist in the Microsoft Genomics Team and working on the Interactive Analysis component of Terra on Microsoft Azure. Terra on Microsoft Azure cloud computing continues to evolve to meet the demand for high-performance virtual machines (VMs) capable of handling
Tim Looney and Vanesa Braunstein are co-authors of this blog. Tim Looney is the Senior Director of Scientific Affairs at Singular Genomics. He has a background in NGS assay development and bioinformatics. Vanessa Braunstein is the life science product marketing manager at NVIDIA focusing on genomics and drug discovery. She
Genomics analysis is a complex and data-intensive process that requires robust and efficient tools to manage and process large amounts of genetic data. Visual Studio Code (VS Code), a free and open-source code editor developed by Microsoft, is an excellent tool for genomics analysis due to its speed, flexibility, a
We have been working closely with our partners at Microsoft to expand Terra to a multi-cloud offering. We are now launching the preview phase of Terra on Azure. Sign up today to become an early adopter of Terra on Azure.
The AnVIL platform offers intuitive tools to support researchers meet all their NIH Data Management and Sharing Policy needs.
Discover the newest component of the Terra platform, designed to provide data storage and access management capabilities tailored for the life sciences.
Join the early access program to try out the Broad Institute’s new Genomic Variant Store, a highly scalable variant storage and processing solution powered by Google BigQuery on Terra.
Introducing a new utility called Data Uploader and a great set of improvements to the data tables that make it easier to bring data into Terra and organize it.
Terra is developed by the Broad Institute of MIT and Harvard in collaboration with Microsoft and Verily.
