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Disease area of focus

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Retinal Inherited retinal degenerations (IRDs) are characterized by progressive dysfunction and death of rod and cone photoreceptor cells, leading to vision loss, and are one of the most genetically diverse groups of inherited disorders. Identifying the genetic cause of patients’ IRD has become...

When To Say ‘Good Enough’

Blog: October 21, 2019
Beth Cimini One of the most common questions I’m asked when helping a collaborator with an image analysis project is: “How do I know when my analysis workflow is doing well enough at finding the objects or measuring the things I care about?” Unfortunately, it’s also one of the hardest questions to...

Phenotype Submission

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You will be provided a login for our secure online analysis portal, seqr. Each individual sequenced will have a phenotype record within seqr, and for each affected individual, it is required to be filled in by the collaborator before sequencing data can be loaded onto seqr. We use the Human...

Announcing CellProfiler 3.1.9

Blog: September 10, 2019
Beth Cimini Hello all! It’s been a crazy last few months for the CellProfiler team, as we’ve been hiring some new members to the team and working hard on the transition to Python 3, which will bump us into CellProfiler version 4. Keep your eyes peeled for exciting content in the future! We did want...

Benefits to collaborators

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The Center will provide exome and/or whole­ genome sequencing at no cost to the collaborator for affected cases and relatives. This centralized service will offer high­ quality sequencing and analysis at the Broad Institute, incorporating discovery of all classes of variation (including copy number...