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seqr is a software platform for rare disease genomics, developed as part of the Broad CMG. We have added new modules and features to this platform, making it more suitable for clinical research analysis. This intuitive portal is used by us and many of our collaborators for searching for causal variants in Mendelian disease families

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International Clinical Dababase (iClinDB)

iClinDB is an electronic clinical record designed for genetic studies. A key barrier to translating the power of genomic sequencing to clinically oriented research analyses involve the time and resources required for clinically-relevant analysis. To address this barrier, we have developed new features for this tool, optimizing it for monogenic disease studies.