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…
Identifying a genetic diagnosis for individuals with rare monogenic diseases often requires sifting through mountains of genomic 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
Erdal Cosgun is the Lead Data Scientist in the Microsoft Genomics Team and working on Interactive Analysis component of Terra on Microsoft Azure. Erdal is the co-author of this blog and published Use IGV in Terra on Azure with a notebook featured workspace to show how to use IGV on Terra notebooks. Interactive
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.
This study used GATK and seqr in Terra to identify variants likely to cause neurodevelopmental disorders, based on exome data from family trios.
This pediatric oncology study used Terra to identify germline variants contributing to Ewing sarcoma pathogenesis in 1,147 individuals with pediatric sarcoma diagnoses.
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.
A short primer on what is the Global Alliance for Genomics and Health, why it matters, and links to recordings from the 2022 Plenary Meeting.
NVIDIA’s Clara Parabricks workflows are now available in Terra. These GPU-accelerated genomic analysis workflows deliver up to 24x faster execution and can cut the total cost of execution by up to 50% compared to equivalent CPU-based workflows.
Terra is developed by the Broad Institute of MIT and Harvard in collaboration with Microsoft and Verily.
