Case Review

The goal of the CMG program is to discover new genes that cause rare disease.  Our case review process is designed to select cases that will give us the best chance for gene discovery. Learn more about the criteria used for case selection here.

We have two different case submission processes: individual case review and cohort review.  To ensure that you use the ideal case submission pipeline for your samples, it is strongly recommended you first send us an email with a description of the cases you would like to submit.  

Individual Case Review

Individual case review is designed for collaborators who have cases with a variety of diverse phenotypes and clinical histories. To submit cases for individual case review, we ask you first submit a pedigree file with a list of all cases, and their family members, who you would like us to consider for our project.  After your list of cases have been added to our system, we will then ask you to enter all relevant clinical, testing and family history into seqr. This video tutorial will guide you through the process. Once all required information has been entered, our case review team will review your cases and notify you of which cases have been accepted for the CMG.

Cohort Review

Our cohort review process is for collaborators who have groups (>20) of cases with a similar phenotype and prior testing for most known causes of diseases associated with this phenotype. Cohorts have added power for gene discovery, so we encourage these submissions. The first step is to fill out the cohort review form that describes your cohort and provide existing information about the genetic architecture.  Our case review team will review this form and notify you if the cohort is a good fit for CMG and how many cases we would be able to accept. You would then submit a pedigree file and enter all relevant clinical, testing and family history into seqr. Genomic data analysis requires good phenotype information.