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
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.